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G |
ANKH |
ANKH inorganic pyrophosphate transport regulator |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18027777 |
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NCBI chr16:4,095,582...4,271,073
Ensembl chr16:4,105,165...4,271,170
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G |
FGFR2 |
fibroblast growth factor receptor 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10631169 |
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NCBI chr14:131,183,095...131,285,001
Ensembl chr14:131,181,713...131,289,425
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G |
LRP4 |
LDL receptor related protein 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16207730 |
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NCBI chr 2:15,616,137...15,672,876
Ensembl chr 2:15,616,131...15,672,874
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G |
MSX1 |
msh homeobox 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:14630905 |
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NCBI chr 8:5,628,381...5,632,375
Ensembl chr 8:5,628,380...5,632,607
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G |
PAX6 |
paired box 6 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:7559133 PMID:9363853 |
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NCBI chr 2:28,971,565...29,001,149
Ensembl chr 2:28,978,287...29,001,200
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G |
PITX2 |
paired like homeodomain 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10499585 |
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NCBI chr 8:111,697,364...111,723,295
Ensembl chr 8:111,698,757...111,723,298
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G |
RUNX2 |
RUNX family transcription factor 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:14688224 |
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NCBI chr 7:40,106,581...40,353,304
Ensembl chr 7:40,106,532...40,460,687
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G |
SLC39A13 |
solute carrier family 39 member 13 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18985159 PMID:22228435 |
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NCBI chr 2:15,194,028...15,202,936
Ensembl chr 2:15,194,017...15,210,425
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G |
TBX3 |
T-box transcription factor 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9207801 |
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NCBI chr14:37,582,704...37,596,767
Ensembl chr14:37,582,822...37,596,766
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G |
TMCO1 |
transmembrane and coiled-coil domains 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20018682 |
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NCBI chr 4:84,961,912...85,011,139
Ensembl chr 4:84,961,819...85,017,820
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G |
TP63 |
tumor protein p63 |
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ISO |
ClinVar Annotator: match by term: ACRO-DERMATO-UNGUAL-LACRIMAL-TOOTH SYNDROME | ClinVar Annotator: match by term: ADULT syndrome | ClinVar Annotator: match by term: Acro-dermato-ungual-lacrimal-tooth syndrome |
OMIM ClinVar |
PMID:8456838 PMID:8737655 PMID:9443880 PMID:9536098 PMID:10535733 PMID:10839977 PMID:11462173 PMID:11528512 PMID:11929852 PMID:12161593 PMID:12445213 PMID:12525544 PMID:15736220 PMID:16114047 PMID:16724007 PMID:16740912 PMID:17041931 PMID:17224651 PMID:17431922 PMID:17576681 PMID:18603493 PMID:18626511 PMID:18792980 PMID:19353588 PMID:19530185 PMID:19781362 PMID:20180707 PMID:20543567 PMID:20556892 PMID:21078104 PMID:21204238 PMID:21652629 PMID:22607287 PMID:23355676 PMID:23463580 PMID:24309930 PMID:24734328 PMID:25741868 PMID:26882220 PMID:27028492 PMID:27469932 PMID:28293528 PMID:28492532 PMID:29130604 PMID:29620206 PMID:30850703 PMID:32476291 PMID:34308104 More...
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NCBI chr13:127,115,990...127,347,082
Ensembl chr13:127,116,105...127,347,068
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G |
ACP4 |
acid phosphatase 4 |
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ISO |
ClinVar Annotator: match by term: Amelogenesis imperfecta |
ClinVar |
PMID:27843125 |
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NCBI chr 6:55,535,406...55,541,929
Ensembl chr 6:55,536,904...55,541,968
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G |
AMELX |
amelogenin X-linked |
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ISO |
ClinVar Annotator: match by term: Amelogenesis imperfecta |
ClinVar |
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NCBI chr X:8,055,246...8,063,457
Ensembl chr X:8,055,782...8,063,449
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G |
ARHGAP6 |
Rho GTPase activating protein 6 |
|
ISO |
ClinVar Annotator: match by term: Amelogenesis imperfecta |
ClinVar |
|
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NCBI chr X:7,910,851...8,441,579
Ensembl chr X:7,910,858...8,120,386
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G |
BNC2 |
basonuclin zinc finger protein 2 |
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ISO |
ClinVar Annotator: match by term: Congenital enamel hypoplasia |
ClinVar |
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NCBI chr 1:205,925,079...206,380,911
Ensembl chr 1:205,925,091...206,372,121
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G |
CHCHD2 |
coiled-coil-helix-coiled-coil-helix domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Amelogenesis imperfecta |
ClinVar |
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NCBI chr 3:16,812,409...16,819,130
Ensembl chr 3:16,812,404...16,819,124
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G |
COL17A1 |
collagen type XVII alpha 1 chain |
|
ISO |
ClinVar Annotator: match by term: Amelogenesis imperfecta |
ClinVar |
PMID:25741868 |
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NCBI chr14:114,959,404...115,007,734
Ensembl chr14:114,959,411...115,064,783
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G |
COL7A1 |
collagen type VII alpha 1 chain |
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ISO |
ClinVar Annotator: match by term: Amelogenesis imperfecta type 1 |
ClinVar |
PMID:16484981 PMID:25741868 PMID:28492532 |
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NCBI chr13:31,262,750...31,295,112
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G |
DLX3 |
distal-less homeobox 3 |
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ISO |
ClinVar Annotator: match by term: Congenital enamel hypoplasia |
ClinVar |
PMID:25741868 |
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NCBI chr12:26,177,896...26,183,172
Ensembl chr12:26,177,903...26,183,157
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G |
ENAM |
enamelin |
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ISO |
ClinVar Annotator: match by term: Amelogenesis imperfecta | ClinVar Annotator: match by term: Congenital enamel hypoplasia |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 8:67,416,482...67,431,196
Ensembl chr 8:67,416,469...67,433,086
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G |
FAM20C |
FAM20C golgi associated secretory pathway kinase |
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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
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G |
FAM83H |
family with sequence similarity 83 member H |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18484629 PMID:19407157 |
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NCBI chr 4:887,472...907,523
Ensembl chr 4:892,041...907,517
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G |
GPR68 |
G protein-coupled receptor 68 |
|
ISO |
ClinVar Annotator: match by term: Amelogenesis imperfecta |
ClinVar |
PMID:27693231 |
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NCBI chr 7:112,885,160...112,904,214
Ensembl chr 7:112,885,163...112,904,246
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G |
KLK4 |
kallikrein related peptidase 4 |
|
ISO |
ClinVar Annotator: match by term: Amelogenesis imperfecta |
ClinVar |
|
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NCBI chr 6:55,589,997...55,617,514
Ensembl chr 6:55,589,999...55,594,294
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G |
LAMB3 |
laminin subunit beta 3 |
|
ISO |
ClinVar Annotator: match by term: Amelogenesis imperfecta |
ClinVar |
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NCBI chr 9:133,298,009...133,351,162
Ensembl chr 9:133,311,834...133,351,197
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G |
LAMC2 |
laminin subunit gamma 2 |
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ISO |
ClinVar Annotator: match by term: Amelogenesis imperfecta type 1 |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 9:124,427,545...124,499,672
Ensembl chr 9:124,435,807...124,495,351
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G |
LTBP3 |
latent transforming growth factor beta binding protein 3 |
|
ISO |
ClinVar Annotator: match by term: Amelogenesis imperfecta |
ClinVar |
PMID:35998423 |
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NCBI chr 2:6,701,455...6,720,191
Ensembl chr 2:6,701,510...6,720,153
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G |
PSPH |
phosphoserine phosphatase |
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ISO |
ClinVar Annotator: match by term: Congenital enamel hypoplasia |
ClinVar |
PMID:28492532 |
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NCBI chr 3:16,877,904...16,903,062
Ensembl chr 3:16,877,923...16,907,952
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G |
RELT |
RELT TNF receptor |
|
ISO |
ClinVar Annotator: match by term: Amelogenesis imperfecta |
ClinVar |
PMID:25741868 PMID:30506946 PMID:32052416 |
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NCBI chr 9:7,833,387...7,852,469
Ensembl chr 9:7,833,419...7,854,496
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G |
SLC24A4 |
solute carrier family 24 member 4 |
|
ISO |
ClinVar Annotator: match by term: Amelogenesis imperfecta |
ClinVar |
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NCBI chr 7:113,836,207...114,014,952
Ensembl chr 7:113,836,230...114,014,949
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G |
SP6 |
Sp6 transcription factor |
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ISO |
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RGD |
PMID:22676574 |
RGD:10047189 |
NCBI chr12:24,100,769...24,106,828
Ensembl chr12:24,100,801...24,106,792
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G |
WDR72 |
WD repeat domain 72 |
|
ISO |
ClinVar Annotator: match by term: Amelogenesis imperfecta |
ClinVar |
PMID:24033266 PMID:25741868 |
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NCBI chr 1:117,946,022...118,161,827
Ensembl chr 1:117,946,048...118,160,286
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G |
MMP20 |
matrix metallopeptidase 20 |
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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 PMID:22243262 PMID:23355523 PMID:23625376 PMID:25741868 PMID:26502894 PMID:28473773 PMID:28492532 PMID:28659819 PMID:31999931 PMID:33600052 PMID:37228816 More...
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NCBI chr 9:33,261,448...33,308,047
Ensembl chr 9:33,261,443...33,308,047
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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 PMID:33033857 More...
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NCBI chr 1:117,946,022...118,161,827
Ensembl chr 1:117,946,048...118,160,286
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G |
ODAPH |
odontogenesis associated phosphoprotein |
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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 |
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NCBI chr 8:71,215,091...71,225,787
Ensembl chr 8:71,215,152...71,226,319
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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 |
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NCBI chr 7:113,836,207...114,014,952
Ensembl chr 7:113,836,230...114,014,949
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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 PMID:24319098 PMID:25741868 PMID:28492532 More...
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NCBI chr14:114,959,404...115,007,734
Ensembl chr14:114,959,411...115,064,783
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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 PMID:9160387 PMID:9205497 PMID:9242513 PMID:9501007 PMID:9536098 PMID:9690563 PMID:9767254 PMID:9856855 PMID:10577906 PMID:11023379 PMID:11298117 PMID:11451332 PMID:11689492 PMID:11810295 PMID:12813757 PMID:15311214 PMID:15373767 PMID:15538630 PMID:15663509 PMID:15725250 PMID:16199547 PMID:16439963 PMID:16473856 PMID:16674655 PMID:17476356 PMID:17576681 PMID:17916201 PMID:19369679 PMID:20301304 PMID:20574443 PMID:21801158 PMID:22931927 PMID:23278291 PMID:23632796 PMID:23958762 PMID:24617447 PMID:24947307 PMID:25708563 PMID:25741868 PMID:25950805 PMID:27062385 PMID:27375110 PMID:27480391 PMID:28087116 PMID:28492532 PMID:28561256 PMID:28830826 PMID:29334134 PMID:29364557 PMID:29900604 PMID:30544381 PMID:33274474 More...
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NCBI chr 9:133,298,009...133,351,162
Ensembl chr 9:133,311,834...133,351,197
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G |
COL17A1 |
collagen type XVII alpha 1 chain |
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ISO |
ClinVar Annotator: match by term: Amelogenesis imperfecta - hypoplastic autosomal dominant - local |
ClinVar |
PMID:25741868 |
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NCBI chr14:114,959,404...115,007,734
Ensembl chr14:114,959,411...115,064,783
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G |
DLX3 |
distal-less homeobox 3 |
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ISO |
ClinVar Annotator: match by term: Amelogenesis Imperfecta, Dominant |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr12:26,177,896...26,183,172
Ensembl chr12:26,177,903...26,183,157
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G |
ENAM |
enamelin |
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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 PMID:17125728 PMID:19329462 PMID:20439930 PMID:21597265 PMID:22414746 PMID:25741868 PMID:28334996 PMID:28492532 PMID:31478359 PMID:33864320 More...
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NCBI chr 8:67,416,482...67,431,196
Ensembl chr 8:67,416,469...67,433,086
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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 PMID:21597265 PMID:28492532 More...
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NCBI chr 8:67,416,482...67,431,196
Ensembl chr 8:67,416,469...67,433,086
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G |
MMP20 |
matrix metallopeptidase 20 |
|
ISO |
ClinVar Annotator: match by term: Amelogenesis Imperfecta, Recessive |
ClinVar |
|
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NCBI chr 9:33,261,448...33,308,047
Ensembl chr 9:33,261,443...33,308,047
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G |
WDR72 |
WD repeat domain 72 |
|
ISO |
ClinVar Annotator: match by term: Amelogenesis Imperfecta, Recessive |
ClinVar |
PMID:25741868 |
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NCBI chr 1:117,946,022...118,161,827
Ensembl chr 1:117,946,048...118,160,286
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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 PMID:5225441 PMID:7599636 PMID:8406474 PMID:9188994 PMID:10669095 PMID:11201048 PMID:11839357 PMID:11922868 PMID:15111628 PMID:23251683 PMID:25741868 PMID:28492532 More...
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NCBI chr X:8,055,246...8,063,457
Ensembl chr X:8,055,782...8,063,449
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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 PMID:5225441 PMID:7599636 PMID:8406474 PMID:9188994 PMID:10669095 PMID:11201048 PMID:11839357 PMID:11922868 PMID:15111628 PMID:23251683 PMID:25741868 PMID:28492532 More...
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NCBI chr X:7,910,851...8,441,579
Ensembl chr X:7,910,858...8,120,386
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G |
AMBN |
ameloblastin |
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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 |
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NCBI chr 8:67,381,137...67,394,394
Ensembl chr 8:67,381,137...67,394,394
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G |
FAM20A |
FAM20A golgi associated secretory pathway pseudokinase |
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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 PMID:24196488 PMID:25741868 PMID:28086997 PMID:28492532 PMID:32246227 More...
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NCBI chr12:11,606,469...11,663,086
Ensembl chr12:11,607,034...11,657,737
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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 PMID:28492532 PMID:32246227 More...
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NCBI chr12:11,662,344...11,681,490
Ensembl chr12:11,662,347...11,681,373
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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 PMID:25741868 PMID:28492532 More...
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NCBI chr15:67,041,516...67,175,409
Ensembl chr15:67,041,522...67,175,234
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G |
ACP4 |
acid phosphatase 4 |
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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 |
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NCBI chr 6:55,535,406...55,541,929
Ensembl chr 6:55,536,904...55,541,968
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G |
SP6 |
Sp6 transcription factor |
|
ISO |
|
OMIM |
|
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NCBI chr12:24,100,769...24,106,828
Ensembl chr12:24,100,801...24,106,792
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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 PMID:28611678 More...
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NCBI chr 6:55,589,997...55,617,514
Ensembl chr 6:55,589,999...55,594,294
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G |
GPR68 |
G protein-coupled receptor 68 |
|
ISO |
ClinVar Annotator: match by term: Amelogenesis imperfecta, hypomaturation type, IIa6 |
OMIM ClinVar |
PMID:25741868 PMID:27693231 |
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NCBI chr 7:112,885,160...112,904,214
Ensembl chr 7:112,885,163...112,904,246
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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 PMID:28492532 PMID:33034243 More...
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NCBI chr 4:887,472...907,523
Ensembl chr 4:892,041...907,517
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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 PMID:24033266 PMID:25741868 PMID:28492532 PMID:33034243 More...
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NCBI chr 4:887,472...907,523
Ensembl chr 4:892,041...907,517
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AMTN |
amelotin |
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ISO |
ClinVar Annotator: match by term: AMTN-related condition |
OMIM ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 8:67,312,108...67,327,775
Ensembl chr 8:67,312,972...67,326,730
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RELT |
RELT TNF receptor |
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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 |
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NCBI chr 9:7,833,387...7,852,469
Ensembl chr 9:7,833,419...7,854,496
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DLX3 |
distal-less homeobox 3 |
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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 PMID:21520071 PMID:25741868 PMID:27924851 PMID:28492532 More...
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NCBI chr12:26,177,896...26,183,172
Ensembl chr12:26,177,903...26,183,157
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AXIN2 |
axin 2 |
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ISO |
ClinVar Annotator: match by term: Non-syndromic oligodontia |
ClinVar |
PMID:26406231 |
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NCBI chr12:12,311,293...12,343,207
Ensembl chr12:12,311,298...12,343,200
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G |
DKK1 |
dickkopf WNT signaling pathway inhibitor 1 |
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ISO |
DNA:SNP: :rs11001553 (human) |
RGD |
PMID:22984994 |
RGD:12738234 |
NCBI chr14:97,487,854...97,490,118
Ensembl chr14:97,487,226...97,490,288
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EDA |
ectodysplasin A |
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ISO |
ClinVar Annotator: match by term: Partial congenital absence of teeth |
ClinVar |
PMID:19278982 PMID:19623212 PMID:24033266 PMID:24487376 PMID:25741868 PMID:26753551 PMID:27144394 PMID:28492532 PMID:33205897 PMID:33943035 PMID:36294409 More...
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NCBI chr X:55,770,958...56,103,296
Ensembl chr X:55,771,041...56,103,265
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G |
EDA2R |
ectodysplasin A2 receptor |
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ISO |
ClinVar Annotator: match by term: Partial congenital absence of teeth |
ClinVar |
PMID:25741868 |
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NCBI chr X:52,522,231...52,533,080
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EDAR |
ectodysplasin A receptor |
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ISO |
ClinVar Annotator: match by term: Non-syndromic oligodontia |
ClinVar |
PMID:10431241 PMID:17125505 PMID:18065779 PMID:18561327 PMID:18704500 PMID:24884697 PMID:25741868 PMID:26336973 PMID:27305980 PMID:28492532 More...
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NCBI chr 3:47,396,303...47,466,234
Ensembl chr 3:47,396,330...47,465,784
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G |
GLI3 |
GLI family zinc finger 3 |
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ISO |
DNA:SNP: :rs929387 (human) |
RGD |
PMID:22984994 |
RGD:12738234 |
NCBI chr18:52,403,463...52,697,906
Ensembl chr18:52,404,072...52,697,900
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G |
IRX5 |
iroquois homeobox 5 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22581230 |
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NCBI chr 6:30,511,263...30,515,015
Ensembl chr 6:30,511,894...30,514,808
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G |
ITPA |
inosine triphosphatase |
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ISO |
ClinVar Annotator: match by term: Partial congenital absence of teeth |
ClinVar |
PMID:25741868 PMID:26224535 PMID:28492532 PMID:30542205 PMID:30856165 PMID:34989426 More...
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NCBI chr17:32,458,351...32,474,827
Ensembl chr17:32,455,459...32,474,784
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G |
KDF1 |
keratinocyte differentiation factor 1 |
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ISO |
ClinVar Annotator: match by term: Partial congenital absence of teeth |
ClinVar |
PMID:25741868 |
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NCBI chr 6:84,254,493...84,265,112
Ensembl chr 6:84,254,499...84,265,041
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LOC100511376 |
E3 SUMO-protein ligase RanBP2 |
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ISO |
ClinVar Annotator: match by term: Non-syndromic oligodontia |
ClinVar |
PMID:10431241 PMID:17125505 PMID:18065779 PMID:18561327 PMID:18704500 PMID:24884697 PMID:25741868 PMID:26336973 PMID:27305980 PMID:28492532 More...
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NCBI chr 3:47,531,362...47,601,328
Ensembl chr 3:47,531,359...47,601,495
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G |
LTBP3 |
latent transforming growth factor beta binding protein 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19344874 PMID:25899461 |
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NCBI chr 2:6,701,455...6,720,191
Ensembl chr 2:6,701,510...6,720,153
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G |
MMP13 |
matrix metallopeptidase 13 |
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ISO |
DNA:SNP: :rs2252070 (human) |
RGD |
PMID:24351915 |
RGD:13204812 |
NCBI chr 9:33,549,003...33,616,700
Ensembl chr 9:33,549,008...33,561,162
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G |
MMP9 |
matrix metallopeptidase 9 |
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ISO |
DNA:SNP: :rs17576 (human) |
RGD |
PMID:24351915 |
RGD:13204812 |
NCBI chr17:48,179,690...48,186,782
Ensembl chr17:48,179,671...48,186,788
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G |
MSX1 |
msh homeobox 1 |
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ISO |
autosomal dominant hypodontia, HYD1, OMIM:106600 CTD Direct Evidence: marker/mechanism |
RGD CTD |
PMID:8696335 |
RGD:1600484 |
NCBI chr 8:5,628,381...5,632,375
Ensembl chr 8:5,628,380...5,632,607
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PAX9 |
paired box 9 |
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ISO |
ClinVar Annotator: match by term: Partial congenital absence of teeth |
ClinVar |
PMID:9536098 PMID:11827258 PMID:12605438 PMID:12786960 PMID:14571272 PMID:14607846 PMID:16236760 PMID:16479262 PMID:17576681 PMID:19429910 PMID:22581971 PMID:25741868 PMID:28166811 PMID:28492532 PMID:28910570 PMID:30417976 PMID:36071541 More...
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NCBI chr 7:63,324,709...63,346,326
Ensembl chr 7:63,324,711...63,346,310
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SLC25A21 |
solute carrier family 25 member 21 |
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ISO |
ClinVar Annotator: match by term: Partial congenital absence of teeth |
ClinVar |
PMID:11827258 PMID:28492532 |
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NCBI chr 7:62,808,126...63,326,634
Ensembl chr 7:62,810,937...63,325,625
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SBDS |
SBDS ribosome maturation factor |
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ISO |
ClinVar Annotator: match by term: Anodontia of permanent dentition |
ClinVar |
PMID:12496757 PMID:14749921 PMID:15284109 PMID:15769891 PMID:15860664 PMID:15942154 PMID:17478638 PMID:19148133 PMID:20301722 PMID:21695142 PMID:22934832 PMID:22935661 PMID:24033266 PMID:24388329 PMID:24629175 PMID:25525159 PMID:25729736 PMID:25741868 PMID:26822237 PMID:27290639 PMID:31131953 PMID:32150944 PMID:32581362 PMID:34758064 PMID:36835434 More...
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NCBI chr 3:16,161,524...16,168,619
Ensembl chr 3:16,161,580...16,169,453
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G |
PITX2 |
paired like homeodomain 2 |
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ISO |
ClinVar Annotator: match by term: Anterior segment dysgenesis 4 | ClinVar Annotator: match by term: Iris hypoplasia with early onset glaucoma, autosomal dominant |
OMIM ClinVar |
PMID:7581385 PMID:8942889 PMID:9437321 PMID:9618168 PMID:25741868 PMID:28492532 PMID:32499604 More...
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NCBI chr 8:111,697,364...111,723,295
Ensembl chr 8:111,698,757...111,723,298
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HYAL1 |
hyaluronidase 1 |
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ISO |
ClinVar Annotator: match by term: Auroneurodental syndrome |
ClinVar |
PMID:34805998 |
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NCBI chr13:32,793,784...32,794,650
Ensembl chr13:32,793,572...32,794,700
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G |
HYAL3 |
hyaluronidase 3 |
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ISO |
ClinVar Annotator: match by term: Auroneurodental syndrome |
ClinVar |
PMID:34805998 |
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NCBI chr13:32,790,843...32,796,995
Ensembl chr13:32,790,850...32,796,563
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ATP6V1B2 |
ATPase H+ transporting V1 subunit B2 |
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ISO |
ClinVar Annotator: match by term: Deafness, congenital, with onychodystrophy, autosomal dominant |
OMIM ClinVar |
PMID:24913193 PMID:25741868 PMID:28396750 PMID:30311386 PMID:31581539 PMID:31655144 More...
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NCBI chr14:4,289,257...4,318,587
Ensembl chr14:4,289,339...4,318,584
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DSPP |
dentin sialophosphoprotein |
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ISO |
ClinVar Annotator: match by term: DGI1/DFNA39 SYNDROME | ClinVar Annotator: match by term: Deafness, autosomal dominant 39, with dentinogenesis imperfecta 1 | ClinVar Annotator: match by term: Deafness, autosomal dominant nonsyndromic sensorineural 39, with dentinogenesis imperfecta 1 |
OMIM ClinVar |
PMID:11175790 PMID:15592686 PMID:22392858 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30311386 More...
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NCBI chr 8:131,318,187...131,444,274
Ensembl chr 8:131,319,983...131,472,761
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G |
ALPK1 |
alpha kinase 1 |
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ISO |
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 |
ClinVar |
PMID:25741868 |
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NCBI chr 8:110,241,220...110,368,001
Ensembl chr 8:110,241,227...110,367,912
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G |
ANK2 |
ankyrin 2 |
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ISO |
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 |
ClinVar |
PMID:25741868 |
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NCBI chr 8:109,306,793...109,661,970
Ensembl chr 8:109,306,797...109,912,908
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FAM241A |
family with sequence similarity 241 member A |
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ISO |
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 |
ClinVar |
PMID:25741868 |
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NCBI chr 8:110,468,450...110,504,828
Ensembl chr 8:110,468,757...110,504,912
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G |
HMGN2 |
high mobility group nucleosomal binding domain 2 |
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ISO |
OMIM:180500 |
MouseDO |
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NCBI chr 6:83,857,114...83,861,907
Ensembl chr 6:83,858,177...83,861,905
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G |
LARP7 |
La ribonucleoprotein 7, transcriptional regulator |
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ISO |
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 |
ClinVar |
PMID:25741868 |
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NCBI chr 8:110,069,565...110,089,789
Ensembl chr 8:110,069,829...110,089,708
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G |
NEUROG2 |
neurogenin 2 |
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ISO |
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 |
ClinVar |
PMID:25741868 |
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NCBI chr 8:110,200,681...110,206,081
Ensembl chr 8:110,201,161...110,201,979
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G |
PITX2 |
paired like homeodomain 2 |
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ISO |
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 |
OMIM ClinVar |
PMID:8944018 PMID:9536098 PMID:9685346 PMID:10490637 PMID:11301317 PMID:11487566 PMID:12130547 PMID:12381896 PMID:12612071 PMID:15378534 PMID:15591271 PMID:15728254 PMID:15895993 PMID:16389592 PMID:16498627 PMID:16936096 PMID:17167399 PMID:17576681 PMID:18045789 PMID:18723525 PMID:19052653 PMID:19218601 PMID:19513095 PMID:20881294 PMID:22224469 PMID:22569110 PMID:24604414 PMID:25741868 PMID:26220699 PMID:28492532 PMID:28611552 PMID:28730073 PMID:29100920 PMID:29506241 PMID:29664915 PMID:30457409 PMID:31185933 PMID:31529555 PMID:32499604 PMID:33304895 PMID:33492563 PMID:35882526 More...
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NCBI chr 8:111,697,364...111,723,295
Ensembl chr 8:111,698,757...111,723,298
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G |
PRDM5 |
PR/SET domain 5 |
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ISO |
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 |
ClinVar |
PMID:26489929 |
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NCBI chr 8:103,188,312...103,383,955
Ensembl chr 8:103,189,561...103,382,094
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G |
TIFA |
TRAF interacting protein with forkhead associated domain |
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ISO |
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 |
ClinVar |
PMID:25741868 |
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NCBI chr 8:110,377,817...110,394,190
Ensembl chr 8:110,377,892...110,389,604
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G |
ZGRF1 |
zinc finger GRF-type containing 1 |
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ISO |
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 |
ClinVar |
PMID:25741868 |
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NCBI chr 8:110,089,920...110,168,086
Ensembl chr 8:110,090,001...110,168,081
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CDH1 |
cadherin 1 |
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ISO |
ClinVar Annotator: match by term: Blepharocheilodontic syndrome 1 |
OMIM ClinVar |
PMID:2449335 PMID:3028782 PMID:8075649 PMID:9537325 PMID:9744472 PMID:11305955 PMID:11332401 PMID:11598162 PMID:11747475 PMID:11948460 PMID:12414534 PMID:12532420 PMID:12588804 PMID:12800196 PMID:14500541 PMID:15235021 PMID:16061854 PMID:16501831 PMID:16787116 PMID:16801346 PMID:16924464 PMID:17221870 PMID:17522512 PMID:17545690 PMID:18442100 PMID:19139070 PMID:19268661 PMID:19269290 PMID:19725995 PMID:20233471 PMID:20373070 PMID:20719348 PMID:20921021 PMID:21106365 PMID:21271559 PMID:21424370 PMID:22470475 PMID:22703879 PMID:22723466 PMID:22850631 PMID:23197654 PMID:23264079 PMID:23709761 PMID:24033266 PMID:24204729 PMID:24326041 PMID:24493355 PMID:24690483 PMID:24728327 PMID:24755471 PMID:25067988 PMID:25123297 PMID:25186627 PMID:25231023 PMID:25593300 PMID:25637381 PMID:25741868 PMID:25882375 PMID:25980754 PMID:26072394 PMID:26123647 PMID:26182300 PMID:26206375 PMID:26467025 PMID:26483394 PMID:26580448 PMID:26681312 PMID:26759166 PMID:26845104 PMID:26893459 PMID:26976419 PMID:27146957 PMID:27153395 PMID:27227907 PMID:27443514 PMID:27499925 PMID:27566442 PMID:27582386 PMID:27616075 PMID:27621404 PMID:27904775 PMID:27930734 PMID:27978560 PMID:28135145 PMID:28301459 PMID:28492532 PMID:28522829 PMID:28608266 PMID:28640387 PMID:28688938 PMID:28767289 PMID:28852190 PMID:28873162 PMID:28944238 PMID:28961279 PMID:28993866 PMID:29025585 PMID:29212164 PMID:29338689 PMID:29348693 PMID:29470806 PMID:29492670 PMID:29522266 PMID:29577179 PMID:29589180 PMID:29641532 PMID:29752822 PMID:29922827 PMID:30089731 PMID:30287823 PMID:30306255 PMID:30311375 PMID:30374176 PMID:30426508 PMID:30661051 PMID:31159747 PMID:31206626 PMID:31514334 PMID:31589614 PMID:31742824 PMID:31871109 PMID:32068069 PMID:32260281 PMID:32269045 PMID:32283892 PMID:32426482 PMID:32566746 PMID:32658311 PMID:32842532 PMID:32885271 PMID:32959997 PMID:32980694 PMID:33193653 PMID:33471991 PMID:33619332 PMID:33980423 PMID:34250417 PMID:34326862 PMID:34471991 PMID:34541275 PMID:34949788 PMID:35089076 PMID:35171259 PMID:35884425 PMID:36243179 PMID:36271359 PMID:36436516 PMID:36474027 PMID:36605468 PMID:36988593 PMID:38153744 More...
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NCBI chr 6:18,075,487...18,155,986
Ensembl chr 6:18,075,480...18,155,986
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CTNND1 |
catenin delta 1 |
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ISO |
ClinVar Annotator: match by term: Blepharocheilodontic syndrome 2 | ClinVar Annotator: match by term: CTNND1-related condition |
OMIM ClinVar |
PMID:25741868 PMID:28301459 PMID:28492532 PMID:29805042 PMID:32196547 PMID:37589029 More...
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NCBI chr 2:13,143,604...13,209,251
Ensembl chr 2:13,154,338...13,209,250
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LTBP3 |
latent transforming growth factor beta binding protein 3 |
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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 PMID:19344874 PMID:25640679 PMID:25669657 PMID:25741868 PMID:25899461 PMID:28492532 PMID:29625025 PMID:30887145 PMID:33082559 PMID:34906192 PMID:35998423 More...
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NCBI chr 2:6,701,455...6,720,191
Ensembl chr 2:6,701,510...6,720,153
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SCYL1 |
SCY1 like pseudokinase 1 |
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ISO |
ClinVar Annotator: match by term: Brachyolmia-amelogenesis imperfecta syndrome |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 2:6,720,047...6,733,477
Ensembl chr 2:6,716,115...6,733,438
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G |
LRP1 |
LDL receptor related protein 1 |
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ISO |
ClinVar Annotator: match by term: Keratosis pilaris |
ClinVar |
PMID:25741868 PMID:26142438 PMID:28381441 |
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NCBI chr 5:22,435,636...22,519,276
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LONP1 |
lon peptidase 1, mitochondrial |
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ISO |
ClinVar Annotator: match by term: CEREBRAL, OCULAR, DENTAL, AURICULAR, AND SKELETAL ANOMALIES SYNDROME | ClinVar Annotator: match by term: CODAS syndrome | ClinVar Annotator: match by term: Cerebral, ocular, dental, auricular, and skeletal syndrome | ClinVar Annotator: match by term: LONP1-related condition |
OMIM ClinVar |
PMID:1887855 PMID:5574826 PMID:9536098 PMID:17576681 PMID:25574826 PMID:25741868 PMID:25741869 PMID:25808063 PMID:26034137 PMID:27878435 PMID:28492532 PMID:29408517 PMID:30304514 PMID:31636596 PMID:31923470 PMID:34547244 More...
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NCBI chr 2:73,266,310...73,286,774
Ensembl chr 2:73,266,258...73,286,773
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G |
CNNM4 |
cyclin and CBS domain divalent metal cation transport mediator 4 |
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ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy amelogenesis imperfecta |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 3:56,814,823...56,858,460
Ensembl chr 3:56,814,832...56,858,453
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FGF3 |
fibroblast growth factor 3 |
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ISO |
ClinVar Annotator: match by term: Congenital Deafness with Inner Ear Agenesis, Microtia, and Microdontia | ClinVar Annotator: match by term: DEAFNESS WITH LAMM | ClinVar Annotator: match by term: Deafness with labyrinthine aplasia microtia and microdontia (LAMM) |
OMIM ClinVar |
PMID:17236138 PMID:18435799 PMID:18701883 PMID:19950373 PMID:21306635 PMID:21480479 PMID:22993869 PMID:25432227 PMID:25741868 PMID:28492532 PMID:30311386 PMID:31336982 PMID:33187236 PMID:33552643 PMID:34238775 More...
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NCBI chr 2:3,489,208...3,496,532
Ensembl chr 2:3,489,009...3,497,533
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G |
IL11RA |
interleukin 11 receptor subunit alpha |
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ISO |
ClinVar Annotator: match by term: Craniosynostosis and dental anomalies | ClinVar Annotator: match by term: IL11RA-related condition |
OMIM ClinVar |
PMID:21741611 PMID:24498618 PMID:25741868 PMID:28492532 PMID:32860008 PMID:34906502 More...
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NCBI chr10:32,138,984...32,149,315
Ensembl chr10:32,139,063...32,146,138
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CFTR |
CF transmembrane conductance regulator |
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ISO |
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RGD |
PMID:31942562 |
RGD:126928119 |
NCBI chr18:28,627,717...28,818,209
Ensembl chr18:28,627,728...28,817,950
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G |
DSPP |
dentin sialophosphoprotein |
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ISO |
ClinVar Annotator: match by term: ANOMALOUS DYSPLASIA OF DENTIN |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 8:131,318,187...131,444,274
Ensembl chr 8:131,319,983...131,472,761
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G |
SSUH2 |
ssu-2 homolog |
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ISO |
OMIM:125400 | OMIM:125420 |
MouseDO |
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NCBI chr13:65,041,193...65,066,367
Ensembl chr13:65,039,719...65,066,369
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G |
SMOC2 |
SPARC related modular calcium binding 2 |
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ISO |
ClinVar Annotator: match by term: DENTIN DYSPLASIA, TYPE I, WITH EXTREME MICRODONTIA AND MISSHAPEN TEETH | ClinVar Annotator: match by term: Dentin dysplasia type I | ClinVar Annotator: match by term: SMOC2-related condition |
OMIM ClinVar |
PMID:22152679 PMID:23317772 PMID:25741868 PMID:28492532 |
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NCBI chr 1:1,193,163...1,332,739
Ensembl chr 1:1,193,167...1,332,694
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G |
DSPP |
dentin sialophosphoprotein |
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ISO |
ClinVar Annotator: match by term: DENTIN DYSPLASIA, TYPE II |
OMIM ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 8:131,318,187...131,444,274
Ensembl chr 8:131,319,983...131,472,761
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G |
COL1A1 |
collagen type I alpha 1 chain |
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ISO |
ClinVar Annotator: match by term: Dentinogenesis imperfecta |
ClinVar |
PMID:7691343 PMID:7695699 PMID:8218237 PMID:9016532 PMID:17078022 PMID:19344236 PMID:24668929 PMID:25741868 PMID:25944380 PMID:27509835 PMID:28492532 PMID:29807018 More...
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NCBI chr12:26,379,087...26,397,180
Ensembl chr12:26,379,090...26,397,004
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G |
COL1A2 |
collagen type I alpha 2 chain |
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ISO |
ClinVar Annotator: match by term: Dentinogenesis imperfecta |
ClinVar |
PMID:7695699 PMID:8218237 PMID:9016532 PMID:16705691 PMID:17078022 PMID:19344236 PMID:23227268 PMID:25741868 PMID:25944380 PMID:26177859 PMID:26788535 PMID:27510842 PMID:28492532 PMID:30152103 PMID:30715774 PMID:30886339 PMID:31429852 More...
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NCBI chr 9:74,174,484...74,210,407
Ensembl chr 9:74,173,931...74,210,397
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G |
DSPP |
dentin sialophosphoprotein |
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ISO |
ClinVar Annotator: match by term: Capdepont teeth | ClinVar Annotator: match by term: Dentinogenesis imperfecta | ClinVar Annotator: match by term: Hereditary Opalescent Dentin | ClinVar Annotator: match by term: Opalescent dentin |
OMIM ClinVar |
PMID:11175779 PMID:11175790 PMID:14758537 PMID:15592686 PMID:16199547 PMID:18456718 PMID:19131317 PMID:22243242 PMID:22392858 PMID:25741868 PMID:26788535 PMID:27993330 PMID:28492532 More...
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NCBI chr 8:131,318,187...131,444,274
Ensembl chr 8:131,319,983...131,472,761
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G |
DSPP |
dentin sialophosphoprotein |
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ISO |
ClinVar Annotator: match by term: Brandywine type dentinogenesis imperfecta |
OMIM ClinVar |
PMID:11175790 PMID:15592686 PMID:22392858 PMID:25741868 PMID:28492532 |
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NCBI chr 8:131,318,187...131,444,274
Ensembl chr 8:131,319,983...131,472,761
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G |
SATB1 |
SATB homeobox 1 |
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ISO |
ClinVar Annotator: match by term: Developmental delay with dysmorphic facies and dental anomalies | ClinVar Annotator: match by term: SATB1-related condition |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:33513338 PMID:34782754 |
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NCBI chr13:5,315,985...5,410,686
Ensembl chr13:5,314,148...5,417,610
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G |
DSP |
desmoplakin |
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ISO |
ClinVar Annotator: match by term: Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis |
OMIM ClinVar |
PMID:3198322 PMID:9536098 PMID:11063735 PMID:12101406 PMID:12802069 PMID:15941723 PMID:16175511 PMID:16199547 PMID:16628197 PMID:16774985 PMID:16917092 PMID:17576681 PMID:18382419 PMID:19597050 PMID:19863551 PMID:20031617 PMID:20152563 PMID:20400443 PMID:20525856 PMID:20716751 PMID:20857253 PMID:20864495 PMID:20940358 PMID:21062920 PMID:21264154 PMID:21397041 PMID:21606390 PMID:21606396 PMID:21636032 PMID:21723241 PMID:21756917 PMID:21859740 PMID:22214898 PMID:22216297 PMID:22795705 PMID:22949226 PMID:23292937 PMID:23299917 PMID:23396983 PMID:23651034 PMID:23861362 PMID:23891292 PMID:24033266 PMID:24070718 PMID:24125834 PMID:24503780 PMID:24825141 PMID:24981977 PMID:25225338 PMID:25227139 PMID:25351510 PMID:25447171 PMID:25516398 PMID:25525159 PMID:25637381 PMID:25741868 PMID:25765472 PMID:25819062 PMID:25979592 PMID:26099957 PMID:26138720 PMID:26187847 PMID:26220970 PMID:26272908 PMID:26332594 PMID:26399581 PMID:26585738 PMID:26604139 PMID:26606670 PMID:26656175 PMID:26743238 PMID:26833927 PMID:27000522 PMID:27054166 PMID:27097650 PMID:27194543 PMID:27329731 PMID:27332903 PMID:27532257 PMID:27698334 PMID:27930701 PMID:28008423 PMID:28045975 PMID:28074886 PMID:28087426 PMID:28254189 PMID:28255936 PMID:28341588 PMID:28416588 PMID:28471438 PMID:28492532 PMID:28527814 PMID:28600387 PMID:28611029 PMID:28759816 PMID:28790152 PMID:28798025 PMID:29062697 PMID:29095814 PMID:29178656 PMID:29192238 PMID:29247119 PMID:29253866 PMID:29386531 PMID:29606362 PMID:29607617 PMID:29633331 PMID:29802319 PMID:29885824 PMID:29915098 PMID:30165862 PMID:30276209 PMID:30382575 PMID:30398466 PMID:30615648 PMID:30685992 PMID:30731207 PMID:30775854 PMID:30847666 PMID:30975432 PMID:31073624 PMID:31110529 PMID:31114860 PMID:31118017 PMID:31378211 PMID:31402444 PMID:31514951 PMID:31534214 PMID:31568572 PMID:31737537 PMID:31770195 PMID:31785789 PMID:31983221 PMID:32114801 PMID:32228044 PMID:32277046 PMID:32372669 PMID:32600061 PMID:32659924 PMID:32746448 PMID:32826072 PMID:32879264 PMID:32880476 PMID:32931854 PMID:32942234 PMID:32969603 PMID:33029862 PMID:33082984 PMID:33232181 PMID:33313835 PMID:33460606 PMID:33500567 PMID:33552729 PMID:33652588 PMID:33684294 PMID:33722762 PMID:33874732 PMID:33996946 PMID:34026522 PMID:34290054 PMID:34298581 PMID:34317553 PMID:34352074 PMID:34389451 PMID:34766015 PMID:34815391 PMID:34935411 PMID:35008956 PMID:35026164 PMID:35087879 PMID:35444050 PMID:35581137 PMID:35819174 PMID:36178741 PMID:36431211 PMID:36672924 PMID:36768812 PMID:36868229 PMID:37198425 PMID:37589201 PMID:37904629 PMID:37936624 More...
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NCBI chr 7:4,862,649...4,915,626
Ensembl chr 7:4,862,649...4,915,623
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G |
EDA |
ectodysplasin A |
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ISO |
ClinVar Annotator: match by term: Hypohidrotic X-linked ectodermal dysplasia |
OMIM ClinVar |
PMID:8696334 PMID:9507389 PMID:9536098 PMID:9630076 PMID:9683615 PMID:9736768 PMID:9856856 PMID:10469321 PMID:10951256 PMID:11279189 PMID:11295832 PMID:11309369 PMID:11378824 PMID:11416205 PMID:12930312 PMID:12947561 PMID:12949972 PMID:14656435 PMID:15461765 PMID:15663448 PMID:16199547 PMID:16583127 PMID:17066260 PMID:17256800 PMID:17576681 PMID:17970812 PMID:18076698 PMID:18231121 PMID:18384562 PMID:18386312 PMID:18386315 PMID:18427821 PMID:18451855 PMID:18510547 PMID:18545687 PMID:18657636 PMID:18666859 PMID:18688569 PMID:18821982 PMID:19278982 PMID:19438931 PMID:19504606 PMID:19533796 PMID:19592680 PMID:19623212 PMID:19921643 PMID:19960895 PMID:20077893 PMID:20236127 PMID:20374512 PMID:20486090 PMID:20979233 PMID:21357618 PMID:21457804 PMID:22032522 PMID:22382802 PMID:22428923 PMID:22633615 PMID:22875504 PMID:23293949 PMID:23553579 PMID:23687000 PMID:23744313 PMID:23926003 PMID:23989902 PMID:23991204 PMID:24033266 PMID:24279917 PMID:24312213 PMID:24330993 PMID:24487376 PMID:24631698 PMID:24648697 PMID:24689965 PMID:24715423 PMID:24724966 PMID:25333067 PMID:25339629 PMID:25626993 PMID:25640679 PMID:25741868 PMID:25846883 PMID:26273176 PMID:26345974 PMID:26411740 PMID:26634545 PMID:26753551 PMID:27054699 PMID:27144394 PMID:27264909 PMID:27305980 PMID:27538153 PMID:27657131 PMID:28045201 PMID:28052341 PMID:28492532 PMID:29444360 PMID:29676859 PMID:30088137 PMID:30117778 PMID:30417976 PMID:31129666 PMID:31306530 PMID:31489414 PMID:31652981 PMID:31796081 PMID:31852928 PMID:31924237 PMID:32176048 PMID:33205897 PMID:33502802 PMID:33943035 PMID:34545288 PMID:34573371 PMID:34817077 PMID:34863015 PMID:34906502 PMID:35023123 PMID:36071541 PMID:36294409 PMID:38287639 PMID:202361270 More...
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NCBI chr X:55,770,958...56,103,296
Ensembl chr X:55,771,041...56,103,265
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G |
EDA2R |
ectodysplasin A2 receptor |
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ISO |
ClinVar Annotator: match by term: Hypohidrotic X-linked ectodermal dysplasia |
ClinVar |
PMID:22889853 |
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NCBI chr X:52,522,231...52,533,080
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G |
MVK |
mevalonate kinase |
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ISO |
ClinVar Annotator: match by term: Ectodermal dysplasia 1, anhidrotic |
ClinVar |
PMID:25741868 |
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NCBI chr14:41,320,790...41,357,437
Ensembl chr14:41,281,673...41,357,368
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G |
CCDC138 |
coiled-coil domain containing 138 |
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ISO |
ClinVar Annotator: match by term: Ectodermal Dysplasia 3, Anhidrotic | ClinVar Annotator: match by term: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant |
ClinVar |
PMID:10431241 PMID:10431242 PMID:18854857 PMID:20979233 PMID:28492532 PMID:28981473 More...
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NCBI chr 3:47,470,649...47,525,606
Ensembl chr 3:47,470,709...47,523,529
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G |
EDAR |
ectodysplasin A receptor |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant hypohidrotic ectodermal dysplasia | ClinVar Annotator: match by term: Ectodermal Dysplasia 3, Anhidrotic | ClinVar Annotator: match by term: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant | ClinVar Annotator: match by term: Ectodermal dysplasia 10a, hypohidrotic/hair/tooth type, autosomal dominant |
OMIM ClinVar |
PMID:9536098 PMID:10431241 PMID:10431242 PMID:11035039 PMID:11279189 PMID:15013427 PMID:16029325 PMID:16199547 PMID:16435307 PMID:17125505 PMID:17576681 PMID:18065779 PMID:18231121 PMID:18561327 PMID:18704500 PMID:18854857 PMID:19438931 PMID:20236127 PMID:20979233 PMID:21771270 PMID:21876339 PMID:22032522 PMID:23401279 PMID:23991204 PMID:24033266 PMID:24641098 PMID:24884697 PMID:25741868 PMID:26336973 PMID:27305980 PMID:27657131 PMID:28265457 PMID:28492532 PMID:28981473 PMID:31245878 PMID:32274043 PMID:32325225 PMID:33205897 PMID:36135330 More...
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NCBI chr 3:47,396,303...47,466,234
Ensembl chr 3:47,396,330...47,465,784
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G |
EDARADD |
EDAR associated death domain |
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ISO |
ClinVar Annotator: match by term: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant |
ClinVar |
PMID:9245989 PMID:11780064 PMID:17354266 PMID:20222921 PMID:25741868 |
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NCBI chr14:54,924,156...54,992,206
Ensembl chr14:54,925,771...54,990,848
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G |
GCC2 |
GRIP and coiled-coil domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Ectodermal Dysplasia 3, Anhidrotic |
ClinVar |
PMID:10431241 PMID:10431242 PMID:18854857 PMID:20979233 PMID:28492532 PMID:28981473 More...
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NCBI chr 3:47,718,251...47,759,060
Ensembl chr 3:47,718,254...47,758,999
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G |
LIMS1 |
LIM zinc finger domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Ectodermal Dysplasia 3, Anhidrotic |
ClinVar |
PMID:10431241 PMID:10431242 PMID:18854857 PMID:20979233 PMID:28492532 PMID:28981473 More...
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NCBI chr 3:47,607,737...47,704,921
Ensembl chr 3:47,606,230...47,672,884
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G |
LOC100511376 |
E3 SUMO-protein ligase RanBP2 |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant hypohidrotic ectodermal dysplasia | ClinVar Annotator: match by term: Ectodermal Dysplasia 3, Anhidrotic | ClinVar Annotator: match by term: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant | ClinVar Annotator: match by term: Ectodermal dysplasia 10a, hypohidrotic/hair/tooth type, autosomal dominant |
ClinVar |
PMID:9536098 PMID:10431241 PMID:10431242 PMID:11035039 PMID:11279189 PMID:15013427 PMID:16029325 PMID:16199547 PMID:16435307 PMID:17125505 PMID:17576681 PMID:18065779 PMID:18231121 PMID:18561327 PMID:18704500 PMID:18854857 PMID:19438931 PMID:20236127 PMID:20979233 PMID:21771270 PMID:21876339 PMID:22032522 PMID:23401279 PMID:23991204 PMID:24033266 PMID:24641098 PMID:24884697 PMID:25741868 PMID:26336973 PMID:27305980 PMID:27657131 PMID:28265457 PMID:28492532 PMID:28981473 PMID:31245878 PMID:32274043 PMID:32325225 PMID:33205897 PMID:36135330 More...
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NCBI chr 3:47,531,362...47,601,328
Ensembl chr 3:47,531,359...47,601,495
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G |
LOC100623441 |
sulfotransferase 1C4 |
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ISO |
ClinVar Annotator: match by term: Ectodermal Dysplasia 3, Anhidrotic |
ClinVar |
PMID:10431241 PMID:10431242 PMID:18854857 PMID:20979233 PMID:28492532 PMID:28981473 More...
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NCBI chr 3:47,765,022...47,777,178
Ensembl chr 3:47,766,407...47,776,867
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G |
SLC5A7 |
solute carrier family 5 member 7 |
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ISO |
ClinVar Annotator: match by term: Ectodermal Dysplasia 3, Anhidrotic |
ClinVar |
PMID:10431241 PMID:10431242 PMID:18854857 PMID:20979233 PMID:28492532 PMID:28981473 More...
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NCBI chr 3:47,994,116...48,020,744
Ensembl chr 3:47,996,335...48,022,379
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G |
SULT1C2 |
sulfotransferase family 1C member 2 |
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ISO |
ClinVar Annotator: match by term: Ectodermal Dysplasia 3, Anhidrotic |
ClinVar |
PMID:10431241 PMID:10431242 PMID:18854857 PMID:20979233 PMID:28492532 PMID:28981473 More...
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NCBI chr 3:47,807,830...47,824,199
Ensembl chr 3:47,807,832...47,824,187
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G |
SULT1C3 |
sulfotransferase family 1C member 3 |
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ISO |
ClinVar Annotator: match by term: Ectodermal Dysplasia 3, Anhidrotic |
ClinVar |
PMID:10431241 PMID:10431242 PMID:18854857 PMID:20979233 PMID:28492532 PMID:28981473 More...
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NCBI chr 3:47,838,671...47,864,646
Ensembl chr 3:47,838,558...47,856,943
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G |
CCDC138 |
coiled-coil domain containing 138 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive hypohidrotic ectodermal dysplasia | ClinVar Annotator: match by term: Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive |
ClinVar |
PMID:10431241 PMID:10431242 PMID:18854857 PMID:20979233 PMID:28492532 PMID:28981473 More...
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NCBI chr 3:47,470,649...47,525,606
Ensembl chr 3:47,470,709...47,523,529
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G |
EDAR |
ectodysplasin A receptor |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive hypohidrotic ectodermal dysplasia | ClinVar Annotator: match by term: Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive | ClinVar Annotator: match by term: Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive |
OMIM ClinVar |
PMID:10431241 PMID:10431242 PMID:11279189 PMID:15373768 PMID:16435307 PMID:18065779 PMID:18231121 PMID:18561327 PMID:18704500 PMID:18816645 PMID:18854857 PMID:20236127 PMID:20979233 PMID:22032522 PMID:24033266 PMID:25741868 PMID:28492532 PMID:28981473 More...
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NCBI chr 3:47,396,303...47,466,234
Ensembl chr 3:47,396,330...47,465,784
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G |
EDARADD |
EDAR associated death domain |
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ISO |
ClinVar Annotator: match by term: Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive |
ClinVar |
PMID:25741868 |
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NCBI chr14:54,924,156...54,992,206
Ensembl chr14:54,925,771...54,990,848
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G |
GCC2 |
GRIP and coiled-coil domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive hypohidrotic ectodermal dysplasia |
ClinVar |
PMID:10431241 PMID:10431242 PMID:18854857 PMID:20979233 PMID:28492532 PMID:28981473 More...
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NCBI chr 3:47,718,251...47,759,060
Ensembl chr 3:47,718,254...47,758,999
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G |
LIMS1 |
LIM zinc finger domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive hypohidrotic ectodermal dysplasia |
ClinVar |
PMID:10431241 PMID:10431242 PMID:18854857 PMID:20979233 PMID:28492532 PMID:28981473 More...
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NCBI chr 3:47,607,737...47,704,921
Ensembl chr 3:47,606,230...47,672,884
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G |
LOC100511376 |
E3 SUMO-protein ligase RanBP2 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive hypohidrotic ectodermal dysplasia | ClinVar Annotator: match by term: Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive | ClinVar Annotator: match by term: Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive |
ClinVar |
PMID:10431241 PMID:10431242 PMID:11279189 PMID:15373768 PMID:16435307 PMID:18065779 PMID:18231121 PMID:18561327 PMID:18704500 PMID:18816645 PMID:18854857 PMID:20236127 PMID:20979233 PMID:22032522 PMID:24033266 PMID:25741868 PMID:28492532 PMID:28981473 More...
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NCBI chr 3:47,531,362...47,601,328
Ensembl chr 3:47,531,359...47,601,495
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G |
LOC100623441 |
sulfotransferase 1C4 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive hypohidrotic ectodermal dysplasia |
ClinVar |
PMID:10431241 PMID:10431242 PMID:18854857 PMID:20979233 PMID:28492532 PMID:28981473 More...
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NCBI chr 3:47,765,022...47,777,178
Ensembl chr 3:47,766,407...47,776,867
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G |
SLC5A7 |
solute carrier family 5 member 7 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive hypohidrotic ectodermal dysplasia |
ClinVar |
PMID:10431241 PMID:10431242 PMID:18854857 PMID:20979233 PMID:28492532 PMID:28981473 More...
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NCBI chr 3:47,994,116...48,020,744
Ensembl chr 3:47,996,335...48,022,379
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G |
SULT1C2 |
sulfotransferase family 1C member 2 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive hypohidrotic ectodermal dysplasia |
ClinVar |
PMID:10431241 PMID:10431242 PMID:18854857 PMID:20979233 PMID:28492532 PMID:28981473 More...
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NCBI chr 3:47,807,830...47,824,199
Ensembl chr 3:47,807,832...47,824,187
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G |
SULT1C3 |
sulfotransferase family 1C member 3 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive hypohidrotic ectodermal dysplasia |
ClinVar |
PMID:10431241 PMID:10431242 PMID:18854857 PMID:20979233 PMID:28492532 PMID:28981473 More...
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NCBI chr 3:47,838,671...47,864,646
Ensembl chr 3:47,838,558...47,856,943
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G |
EDARADD |
EDAR associated death domain |
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ISO |
ClinVar Annotator: match by term: Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant |
OMIM ClinVar |
PMID:9245989 PMID:11780064 PMID:17354266 PMID:20222921 PMID:20979233 PMID:21626677 PMID:25640679 PMID:25741868 PMID:26440664 PMID:28492532 PMID:33502802 PMID:34219261 PMID:34573371 More...
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NCBI chr14:54,924,156...54,992,206
Ensembl chr14:54,925,771...54,990,848
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G |
EDAR |
ectodysplasin A receptor |
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ISO |
ClinVar Annotator: match by term: Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive |
ClinVar |
PMID:10431241 PMID:11035039 PMID:15013427 PMID:16435307 PMID:18231121 PMID:20979233 PMID:23401279 PMID:25741868 PMID:27657131 PMID:28492532 More...
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NCBI chr 3:47,396,303...47,466,234
Ensembl chr 3:47,396,330...47,465,784
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G |
EDARADD |
EDAR associated death domain |
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ISO |
ClinVar Annotator: match by term: Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive | ClinVar Annotator: match by term: Ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive |
OMIM ClinVar |
PMID:9245989 PMID:11212737 PMID:11780064 PMID:17354266 PMID:25741868 PMID:26440664 PMID:26991760 PMID:28492532 PMID:34219261 More...
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NCBI chr14:54,924,156...54,992,206
Ensembl chr14:54,925,771...54,990,848
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LOC100511376 |
E3 SUMO-protein ligase RanBP2 |
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ISO |
ClinVar Annotator: match by term: Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive |
ClinVar |
PMID:10431241 PMID:11035039 PMID:15013427 PMID:16435307 PMID:18231121 PMID:20979233 PMID:23401279 PMID:25741868 PMID:27657131 PMID:28492532 More...
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NCBI chr 3:47,531,362...47,601,328
Ensembl chr 3:47,531,359...47,601,495
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KDF1 |
keratinocyte differentiation factor 1 |
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ISO |
ClinVar Annotator: match by term: Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type | ClinVar Annotator: match by term: KDF1-related condition |
OMIM ClinVar |
PMID:25741868 PMID:27838789 PMID:28492532 |
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NCBI chr 6:84,254,493...84,265,112
Ensembl chr 6:84,254,499...84,265,041
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CST6 |
cystatin E/M |
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ISO |
ClinVar Annotator: match by term: Ectodermal dysplasia 15, hypohidrotic/hair type |
OMIM ClinVar |
PMID:25741868 PMID:30425301 |
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NCBI chr 2:6,323,737...6,325,519
Ensembl chr 2:6,323,740...6,325,415
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G6PD |
glucose-6-phosphate dehydrogenase |
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ISO |
ClinVar Annotator: match by term: ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH IMMUNE DEFICIENCY |
ClinVar |
PMID:25741868 |
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NCBI chr X:125,029,147...125,041,040
Ensembl chr X:125,029,150...125,041,040
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IKBKG |
inhibitor of nuclear factor kappa B kinase regulatory subunit gamma |
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ISO |
ClinVar Annotator: match by term: ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH IMMUNE DEFICIENCY |
ClinVar |
PMID:11224521 PMID:20412081 PMID:25741868 |
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NCBI chr X:125,035,575...125,056,445
Ensembl chr X:125,036,508...125,056,453
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G6PD |
glucose-6-phosphate dehydrogenase |
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ISO |
ClinVar Annotator: match by term: Hyper-IgM immunodeficiency, X-linked, with hypohidrotic ectodermal dysplasia |
ClinVar |
PMID:25741868 |
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NCBI chr X:125,029,147...125,041,040
Ensembl chr X:125,029,150...125,041,040
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IKBKG |
inhibitor of nuclear factor kappa B kinase regulatory subunit gamma |
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ISO |
ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 1 | ClinVar Annotator: match by term: Hyper-IgM immunodeficiency, X-linked, with hypohidrotic ectodermal dysplasia |
OMIM ClinVar |
PMID:117248 PMID:8169255 PMID:11047757 PMID:11179023 PMID:11224521 PMID:11242109 PMID:11484156 PMID:11590134 PMID:12045264 PMID:14726382 PMID:15100680 PMID:15229184 PMID:15833888 PMID:16228229 PMID:16333836 PMID:16379012 PMID:16532398 PMID:16818673 PMID:16950813 PMID:17072331 PMID:17910706 PMID:18179816 PMID:18222329 PMID:18851874 PMID:19903677 PMID:20412081 PMID:21622647 PMID:24682681 PMID:25068423 PMID:25741868 PMID:26117626 PMID:28993958 PMID:29077208 PMID:30422821 PMID:31965418 PMID:33224153 More...
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NCBI chr X:125,035,575...125,056,445
Ensembl chr X:125,036,508...125,056,453
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BAZ1A |
bromodomain adjacent to zinc finger domain 1A |
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ISO |
ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 7:64,969,626...65,069,969
Ensembl chr 7:64,969,640...65,069,889
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CFL2 |
cofilin 2 |
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ISO |
ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 7:65,090,170...65,094,521
Ensembl chr 7:65,090,276...65,094,512
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FAM177A1 |
family with sequence similarity 177 member A1 |
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ISO |
ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 7:64,788,829...64,808,640
Ensembl chr 7:64,788,077...64,808,473
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NFKBIA |
NFKB inhibitor alpha |
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ISO |
ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2 | ClinVar Annotator: match by term: Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency, autosomal dominant |
OMIM ClinVar |
PMID:9536098 PMID:14523047 PMID:15337789 PMID:17576681 PMID:17931563 PMID:18412279 PMID:23708964 PMID:23864385 PMID:23870671 PMID:24033266 PMID:25601653 PMID:25741868 PMID:26888281 PMID:28417298 PMID:28492532 PMID:28629746 PMID:29948576 PMID:32581362 PMID:32750042 More...
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NCBI chr 7:64,508,119...64,510,754
Ensembl chr 7:64,507,822...64,511,277
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PPP2R3C |
protein phosphatase 2 regulatory subunit B''gamma |
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ISO |
ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 7:64,762,863...64,789,919
Ensembl chr 7:64,763,050...64,789,921
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PRORP |
protein only RNase P catalytic subunit |
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ISO |
ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 7:64,620,514...64,763,272
Ensembl chr 7:64,620,517...64,762,428
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PSMA6 |
proteasome 20S subunit alpha 6 |
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ISO |
ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 7:64,578,247...64,603,351
Ensembl chr 7:64,578,243...64,616,491
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SRP54 |
signal recognition particle 54 |
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ISO |
ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 7:64,829,625...64,877,574
Ensembl chr 7:64,829,228...64,877,195
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ANTXR1 |
ANTXR cell adhesion molecule 1 |
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ISO |
ClinVar Annotator: match by term: ANTXR1-related condition | ClinVar Annotator: match by term: GAPO syndrome |
ClinVar OMIM |
PMID:9180938 PMID:9298746 PMID:23602711 PMID:24033266 PMID:25045128 PMID:25741868 PMID:28492532 More...
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NCBI chr 3:73,157,744...73,398,379
Ensembl chr 3:73,157,747...73,398,379
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GATAD1 |
GATA zinc finger domain containing 1 |
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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 PMID:12032265 PMID:12402331 PMID:15542397 PMID:16086329 PMID:16088892 PMID:16141001 PMID:16199547 PMID:17055079 PMID:17576681 PMID:19105186 PMID:20952722 PMID:21031596 PMID:21844578 PMID:21846392 PMID:25326635 PMID:25525159 PMID:25741868 PMID:26319495 PMID:26387595 PMID:26467025 PMID:27124789 PMID:27302843 PMID:27353947 PMID:27469511 PMID:27848944 PMID:28446956 PMID:28492532 PMID:29261186 PMID:29419819 PMID:30561787 PMID:30733538 PMID:31374812 PMID:31628608 PMID:31831025 PMID:31964843 PMID:32203225 PMID:32483926 PMID:33083013 PMID:33708531 PMID:33955040 PMID:33955814 PMID:34513757 PMID:36046390 PMID:37385119 More...
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NCBI chr 9:72,360,321...72,370,064
Ensembl chr 9:72,360,483...72,368,607
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PEX1 |
peroxisomal biogenesis factor 1 |
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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 PMID:9398848 PMID:9536098 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:17576681 PMID:19105186 PMID:19877282 PMID:20301621 PMID:20952722 PMID:21031596 PMID:21844578 PMID:21846392 PMID:21862673 PMID:22871920 PMID:23247051 PMID:23757202 PMID:24033266 PMID:24503136 PMID:25133751 PMID:25182519 PMID:25326635 PMID:25412400 PMID:25525159 PMID:25741868 PMID:26219880 PMID:26287655 PMID:26319495 PMID:26387595 PMID:26467025 PMID:26594346 PMID:26643206 PMID:27090541 PMID:27124789 PMID:27231023 PMID:27302843 PMID:27353947 PMID:27469511 PMID:27848944 PMID:27872819 PMID:27882258 PMID:28432012 PMID:28446956 PMID:28454995 PMID:28468868 PMID:28492532 PMID:28559085 PMID:28600779 PMID:28857144 PMID:29261186 PMID:29377746 PMID:29419819 PMID:29588463 PMID:29907799 PMID:30362618 PMID:30561787 PMID:30577886 PMID:30733538 PMID:31150129 PMID:31216405 PMID:31319225 PMID:31374812 PMID:31589614 PMID:31628608 PMID:31664448 PMID:31742715 PMID:31831025 PMID:31884617 PMID:31964843 PMID:31980526 PMID:32203225 PMID:32483926 PMID:32866347 PMID:32959227 PMID:33083013 PMID:33240318 PMID:33708531 PMID:33749171 PMID:33955040 PMID:33955814 PMID:34426522 PMID:34448047 PMID:34513757 PMID:34744965 PMID:34758253 PMID:35586607 PMID:36046390 PMID:36631813 PMID:37385119 More...
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NCBI chr 9:72,385,755...72,444,718
Ensembl chr 9:72,385,475...72,444,582
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PEX26 |
peroxisomal biogenesis factor 26 |
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ISO |
ClinVar Annotator: match by term: Heimler syndrome 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 5:70,133,024...70,142,515
Ensembl chr 5:70,133,024...70,142,503
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PEX6 |
peroxisomal biogenesis factor 6 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr 7:38,039,852...38,052,384
Ensembl chr 7:38,039,862...38,052,369
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EDA |
ectodysplasin A |
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ISO |
ClinVar Annotator: match by term: Hypohidrotic X-linked ectodermal dysplasia |
ClinVar |
PMID:8696334 PMID:9507389 PMID:9536098 PMID:9630076 PMID:9683615 PMID:9736768 PMID:9856856 PMID:10951256 PMID:11279189 PMID:11295832 PMID:11309369 PMID:11378824 PMID:11416205 PMID:12930312 PMID:12949972 PMID:14656435 PMID:15461765 PMID:15663448 PMID:16199547 PMID:17066260 PMID:17576681 PMID:17970812 PMID:18076698 PMID:18231121 PMID:18384562 PMID:18386312 PMID:18386315 PMID:18427821 PMID:18451855 PMID:18510547 PMID:18545687 PMID:18657636 PMID:18666859 PMID:18821982 PMID:19278982 PMID:19533796 PMID:19592680 PMID:19623212 PMID:19921643 PMID:20236127 PMID:20374512 PMID:20486090 PMID:20979233 PMID:21357618 PMID:21457804 PMID:22032522 PMID:22382802 PMID:22428923 PMID:22633615 PMID:22875504 PMID:23293949 PMID:23553579 PMID:23744313 PMID:23926003 PMID:23989902 PMID:23991204 PMID:24033266 PMID:24279917 PMID:24312213 PMID:24330993 PMID:24487376 PMID:24648697 PMID:24689965 PMID:24724966 PMID:25333067 PMID:25626993 PMID:25741868 PMID:26273176 PMID:26345974 PMID:26634545 PMID:26753551 PMID:27054699 PMID:27144394 PMID:27305980 PMID:27538153 PMID:27657131 PMID:28045201 PMID:28492532 PMID:29444360 PMID:30117778 PMID:31306530 PMID:31796081 PMID:31924237 More...
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NCBI chr X:55,770,958...56,103,296
Ensembl chr X:55,771,041...56,103,265
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EDAR |
ectodysplasin A receptor |
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ISO |
ClinVar Annotator: match by term: Hypohidrotic ectodermal dysplasia |
ClinVar |
PMID:18065779 PMID:18561327 PMID:18704500 PMID:24033266 PMID:25741868 PMID:28492532 PMID:28808699 More...
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NCBI chr 3:47,396,303...47,466,234
Ensembl chr 3:47,396,330...47,465,784
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EDARADD |
EDAR associated death domain |
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ISO |
ClinVar Annotator: match by term: Hypohidrotic ectodermal dysplasia |
ClinVar |
PMID:20222921 PMID:20979233 PMID:21626677 PMID:25741868 PMID:28492532 |
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NCBI chr14:54,924,156...54,992,206
Ensembl chr14:54,925,771...54,990,848
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G |
LOC100511376 |
E3 SUMO-protein ligase RanBP2 |
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ISO |
ClinVar Annotator: match by term: Hypohidrotic ectodermal dysplasia |
ClinVar |
PMID:18065779 PMID:18561327 PMID:18704500 PMID:24033266 PMID:25741868 PMID:28492532 PMID:28808699 More...
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NCBI chr 3:47,531,362...47,601,328
Ensembl chr 3:47,531,359...47,601,495
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TRAF6 |
TNF receptor associated factor 6 |
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ISO |
OMIM:129490 | OMIM:224900 | OMIM:300291 | OMIM:305100 |
MouseDO |
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NCBI chr 2:24,602,749...24,628,263
Ensembl chr 2:24,602,804...24,626,072
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WNT10A |
Wnt family member 10A |
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ISO |
ClinVar Annotator: match by term: Hypohidrotic ectodermal dysplasia |
ClinVar |
PMID:19559398 PMID:20979233 PMID:21279306 PMID:21484994 PMID:22581971 PMID:23167694 PMID:23401279 PMID:23991204 PMID:24449199 PMID:24700731 PMID:25629078 PMID:25713620 PMID:25741868 PMID:26964878 PMID:27881089 PMID:28105635 PMID:28492532 PMID:28813618 PMID:28976000 PMID:29364747 PMID:29431110 PMID:30046887 PMID:30426266 PMID:30974434 PMID:33034246 PMID:34228861 PMID:35537890 More...
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NCBI chr15:120,925,204...120,939,032
Ensembl chr15:120,925,499...120,938,430
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BRCA2 |
BRCA2 DNA repair associated |
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ISO |
ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, with hypodontia and hypogonadotropic hypogonadism |
ClinVar |
PMID:25326637 PMID:25741868 PMID:26295337 PMID:26467025 PMID:26689913 PMID:28492532 More...
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NCBI chr11:8,805,950...8,858,128
Ensembl chr11:8,805,913...8,857,793
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CDH1 |
cadherin 1 |
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ISO |
ClinVar Annotator: match by term: 4h syndrome |
ClinVar |
PMID:25326637 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30311375 PMID:36436516 More...
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NCBI chr 6:18,075,487...18,155,986
Ensembl chr 6:18,075,480...18,155,986
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CHEK2 |
checkpoint kinase 2 |
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ISO |
ClinVar Annotator: match by term: 4h syndrome |
ClinVar |
PMID:15095295 PMID:21244692 PMID:22114986 PMID:22419737 PMID:22862163 PMID:23552953 PMID:24595525 PMID:25085752 PMID:25186627 PMID:25326637 PMID:25741868 PMID:26467025 PMID:26483394 PMID:26681312 PMID:26787654 PMID:26845104 PMID:27443514 PMID:27621404 PMID:27751358 PMID:27779110 PMID:28008555 PMID:28135145 PMID:28492532 PMID:28495237 PMID:28944238 PMID:29368341 PMID:29520813 PMID:29922827 PMID:29945567 PMID:30128536 PMID:30269267 PMID:30287823 PMID:30303537 PMID:30322717 PMID:30426508 PMID:30613976 PMID:30680046 PMID:30851065 PMID:31050813 PMID:31159747 PMID:31263571 PMID:31341520 PMID:31398194 PMID:31447099 PMID:31784482 PMID:31948886 PMID:32227564 PMID:32658311 PMID:32805687 PMID:32830346 PMID:32881420 PMID:32885271 PMID:32906215 PMID:33030641 PMID:33193653 PMID:33471991 PMID:34072659 PMID:34271781 PMID:34637943 PMID:35128723 PMID:35245693 PMID:35643632 PMID:36136322 PMID:36315097 PMID:37449874 PMID:37628581 More...
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NCBI chr14:45,699,833...45,967,350
Ensembl chr14:45,929,715...45,967,290
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ELMOD3 |
ELMO domain containing 3 |
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ISO |
ClinVar Annotator: match by term: ATAXIA, DELAYED DENTITION, AND HYPOMYELINATION |
ClinVar |
PMID:24039609 PMID:25326637 |
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NCBI chr 3:59,369,816...59,401,193
Ensembl chr 3:59,369,820...59,401,151
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GUCY2D |
guanylate cyclase 2D, retinal |
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ISO |
ClinVar Annotator: match by term: POLR3-related leukodystrophy |
ClinVar |
PMID:16505055 PMID:17724218 PMID:21153841 PMID:23035049 PMID:25741868 PMID:26047050 PMID:26253563 PMID:26626312 PMID:28224992 PMID:28492532 More...
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NCBI chr12:53,200,570...53,250,566
Ensembl chr12:53,235,801...53,249,467
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POLR3A |
RNA polymerase III subunit A |
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ISO |
ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, with hypodontia and hypogonadotropic hypogonadism | ClinVar Annotator: match by term: Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome | ClinVar Annotator: match by term: POLR3-related leukodystrophy | ClinVar Annotator: match by term: POLR3A-related condition |
OMIM ClinVar |
PMID:614258 PMID:9536098 PMID:12605447 PMID:16199547 PMID:17159124 PMID:17576681 PMID:20640464 PMID:21855841 PMID:22036171 PMID:22451160 PMID:22819058 PMID:22855961 PMID:23355746 PMID:23694757 PMID:23965854 PMID:25339210 PMID:25741868 PMID:26096995 PMID:26752647 PMID:27029625 PMID:27506977 PMID:27521716 PMID:27535217 PMID:27612211 PMID:27852030 PMID:28334938 PMID:28407788 PMID:28447407 PMID:28459997 PMID:28492532 PMID:29451896 PMID:29618326 PMID:29691679 PMID:30323018 PMID:30414627 PMID:30450527 PMID:30838315 PMID:30847471 PMID:30898877 PMID:31069529 PMID:31438894 PMID:31637490 PMID:31855841 PMID:31932101 PMID:31940116 PMID:32214227 PMID:32342562 PMID:32373668 PMID:32483275 PMID:32555393 PMID:32582862 PMID:32597037 PMID:32600288 PMID:32860008 PMID:33134517 PMID:33491183 PMID:33644862 PMID:33972714 PMID:34284285 PMID:34395528 PMID:34583988 PMID:34589056 PMID:35586607 PMID:35691411 PMID:36140376 PMID:36344503 PMID:36385762 PMID:36397839 PMID:36596744 PMID:36825045 PMID:37077564 PMID:37237429 More...
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NCBI chr14:80,410,143...80,471,740
Ensembl chr14:80,413,099...80,471,697
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POLR3B |
RNA polymerase III subunit B |
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ISO |
ClinVar Annotator: match by term: Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome | ClinVar Annotator: match by term: POLR3-related leukodystrophy | ClinVar Annotator: match by term: Pol III-related leukodystrophy |
ClinVar |
PMID:16199547 PMID:22036171 PMID:22036172 PMID:22855961 PMID:23355746 PMID:24190003 PMID:25133958 PMID:25339210 PMID:25741868 PMID:26045207 PMID:26204956 PMID:27029625 PMID:27512013 PMID:28492532 PMID:28589944 PMID:32180488 PMID:32319736 PMID:32345981 PMID:32371413 PMID:32870266 PMID:33417887 PMID:33726816 PMID:34440436 PMID:35253369 PMID:35316923 PMID:36268624 PMID:37273706 More...
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NCBI chr 5:13,805,157...13,926,733
Ensembl chr 5:13,804,930...13,926,604
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RPS24 |
ribosomal protein S24 |
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ISO |
ClinVar Annotator: match by term: Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome | ClinVar Annotator: match by term: POLR3-related leukodystrophy |
ClinVar |
PMID:22855961 PMID:25741868 PMID:27029625 |
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NCBI chr14:80,473,867...80,480,818
Ensembl chr14:80,473,928...80,480,815
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TGFBR2 |
transforming growth factor beta receptor 2 |
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ISO |
ClinVar Annotator: match by term: Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome |
ClinVar |
PMID:25326637 PMID:25741868 PMID:28492532 |
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NCBI chr13:16,784,370...16,875,828
Ensembl chr13:16,784,490...16,878,160
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CTBP1 |
C-terminal binding protein 1 |
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ISO |
ClinVar Annotator: match by term: CTBP1-related condition | ClinVar Annotator: match by term: Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome |
OMIM ClinVar |
PMID:25741868 PMID:27094857 PMID:28492532 PMID:28955726 PMID:29758562 PMID:29878067 PMID:31041561 More...
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NCBI chr 8:475,164...496,510
Ensembl chr 8:475,888...496,002
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G |
CNNM4 |
cyclin and CBS domain divalent metal cation transport mediator 4 |
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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 PMID:19200527 PMID:23362848 PMID:25525159 PMID:25741868 PMID:28492532 PMID:29421294 PMID:30718709 PMID:34906470 More...
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NCBI chr 3:56,814,823...56,858,460
Ensembl chr 3:56,814,832...56,858,453
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ACSF3 |
acyl-CoA synthetase family member 3 |
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ISO |
ClinVar Annotator: match by term: KBG syndrome |
ClinVar |
PMID:21782149 PMID:25125236 PMID:25413698 PMID:25652421 PMID:28492532 PMID:31602316 PMID:31690835 More...
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NCBI chr 6:663,201...708,800
Ensembl chr 6:663,123...709,186
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ANKRD11 |
ankyrin repeat domain containing 11 |
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ISO |
ClinVar Annotator: match by term: ANKRD11-related condition | ClinVar Annotator: match by term: KBG syndrome | ClinVar Annotator: match by term: Short stature, characteristic facies, macrodontia, mental retardation, and skeletal anomalies |
OMIM ClinVar |
PMID:1218237 PMID:9536098 PMID:15378538 PMID:15384099 PMID:15523620 PMID:15955779 PMID:16199547 PMID:17576681 PMID:18414213 PMID:19344873 PMID:19920853 PMID:21782149 PMID:23463723 PMID:23494856 PMID:24033266 PMID:24088041 PMID:25125236 PMID:25326635 PMID:25356970 PMID:25413698 PMID:25424714 PMID:25464108 PMID:25533962 PMID:25652421 PMID:25741868 PMID:26467025 PMID:26615199 PMID:26633542 PMID:26633545 PMID:27055092 PMID:27605097 PMID:27620904 PMID:27651234 PMID:27667800 PMID:27900361 PMID:28333917 PMID:28449295 PMID:28492532 PMID:28529015 PMID:28708303 PMID:28976722 PMID:29100083 PMID:29258554 PMID:29517769 PMID:29565525 PMID:29758562 PMID:30182498 PMID:30202406 PMID:30544257 PMID:30919572 PMID:30945278 PMID:31144778 PMID:31191201 PMID:31337854 PMID:31602316 PMID:31607427 PMID:31690835 PMID:32124548 PMID:32222090 PMID:32238909 PMID:32581362 PMID:32725632 PMID:32766464 PMID:33144682 PMID:33461977 PMID:33955014 PMID:34012832 PMID:34971082 PMID:35330407 PMID:35682590 PMID:35710456 PMID:35833929 PMID:35906703 PMID:35970914 PMID:36446582 PMID:38317675 More...
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NCBI chr 6:455,856...612,878
Ensembl chr 6:455,851...612,868
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APRT |
adenine phosphoribosyltransferase |
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ISO |
ClinVar Annotator: match by term: KBG syndrome |
ClinVar |
PMID:21782149 PMID:25125236 PMID:25413698 PMID:25652421 PMID:28492532 PMID:31602316 PMID:31690835 More...
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NCBI chr 6:890,272...893,278
Ensembl chr 6:890,831...893,276
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BANP |
BTG3 associated nuclear protein |
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ISO |
ClinVar Annotator: match by term: KBG syndrome |
ClinVar |
PMID:21782149 PMID:25125236 PMID:25413698 PMID:25652421 PMID:28492532 PMID:31690835 More...
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NCBI chr 6:1,421,460...1,495,484
Ensembl chr 6:1,421,462...1,495,486
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C6H16orf95 |
chromosome 6 C16orf95 homolog |
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ISO |
ClinVar Annotator: match by term: KBG syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 6:1,996,457...2,013,709
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CA5A |
carbonic anhydrase 5A |
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ISO |
ClinVar Annotator: match by term: KBG syndrome |
ClinVar |
PMID:21782149 PMID:25125236 PMID:25413698 PMID:25652421 PMID:28492532 PMID:31690835 More...
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NCBI chr 6:1,495,615...1,539,390
Ensembl chr 6:1,506,042...1,538,777
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CBFA2T3 |
CBFA2/RUNX1 partner transcriptional co-repressor 3 |
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ISO |
ClinVar Annotator: match by term: KBG syndrome |
ClinVar |
PMID:21782149 PMID:25125236 PMID:25413698 PMID:25652421 PMID:28492532 PMID:31602316 PMID:31690835 More...
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NCBI chr 6:779,164...854,449
Ensembl chr 6:779,366...853,822
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CDH15 |
cadherin 15 |
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ISO |
ClinVar Annotator: match by term: KBG syndrome |
ClinVar |
PMID:21782149 PMID:25125236 PMID:25413698 PMID:25652421 PMID:28492532 PMID:31602316 PMID:31690835 More...
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NCBI chr 6:636,350...652,260
Ensembl chr 6:636,377...652,165
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CDK10 |
cyclin dependent kinase 10 |
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ISO |
ClinVar Annotator: match by term: KBG syndrome |
ClinVar |
PMID:28492532 PMID:31602316 |
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NCBI chr 6:332,239...339,130
Ensembl chr 6:332,242...339,142
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CDT1 |
chromatin licensing and DNA replication factor 1 |
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ISO |
ClinVar Annotator: match by term: KBG syndrome |
ClinVar |
PMID:21782149 PMID:25125236 PMID:25413698 PMID:25652421 PMID:28492532 PMID:31602316 PMID:31690835 More...
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NCBI chr 6:893,377...897,706
Ensembl chr 6:893,381...897,934
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CENPBD1 |
Putative CENPB DNA-binding domain-containing protein 1 |
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ISO |
ClinVar Annotator: match by term: KBG syndrome |
ClinVar |
PMID:28492532 PMID:31602316 |
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NCBI chr 6:139,644...146,306
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CHMP1A |
charged multivesicular body protein 1A |
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ISO |
ClinVar Annotator: match by term: KBG syndrome |
ClinVar |
PMID:28492532 PMID:31602316 |
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NCBI chr 6:351,878...358,655
Ensembl chr 6:351,866...358,653
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CPNE7 |
copine 7 |
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ISO |
ClinVar Annotator: match by term: KBG syndrome |
ClinVar |
PMID:28492532 PMID:31602316 |
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NCBI chr 6:393,756...410,781
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CTU2 |
cytosolic thiouridylase subunit 2 |
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ISO |
ClinVar Annotator: match by term: KBG syndrome |
ClinVar |
PMID:21782149 PMID:25125236 PMID:25413698 PMID:25652421 PMID:28492532 PMID:31602316 PMID:31690835 More...
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NCBI chr 6:964,551...976,881
Ensembl chr 6:964,566...976,832
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CYBA |
cytochrome b-245 alpha chain |
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ISO |
ClinVar Annotator: match by term: KBG syndrome |
ClinVar |
PMID:21782149 PMID:25125236 PMID:25413698 PMID:25652421 PMID:28492532 PMID:31602316 PMID:31690835 More...
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NCBI chr 6:1,015,212...1,021,422
Ensembl chr 6:1,015,162...1,021,420
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DBNDD1 |
dysbindin domain containing 1 |
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ISO |
ClinVar Annotator: match by term: KBG syndrome |
ClinVar |
PMID:28492532 PMID:31602316 |
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NCBI chr 6:111,053...119,112
Ensembl chr 6:111,212...119,102
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DEF8 |
differentially expressed in FDCP 8 homolog |
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ISO |
ClinVar Annotator: match by term: KBG syndrome |
ClinVar |
PMID:28492532 PMID:31602316 |
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NCBI chr 6:140,854...160,936
Ensembl chr 6:140,908...160,692
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DPEP1 |
dipeptidase 1 |
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ISO |
ClinVar Annotator: match by term: KBG syndrome |
ClinVar |
PMID:28492532 PMID:31602316 |
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NCBI chr 6:361,187...385,757
Ensembl chr 6:361,197...376,616
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FANCA |
FA complementation group A |
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ISO |
ClinVar Annotator: match by term: KBG syndrome |
ClinVar |
PMID:28492532 PMID:31602316 |
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NCBI chr 6:253,207...300,159
Ensembl chr 6:253,207...300,152
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FBXO31 |
F-box protein 31 |
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ISO |
ClinVar Annotator: match by term: KBG syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 6:1,949,254...1,995,459
Ensembl chr 6:1,949,276...1,995,462
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GALNS |
galactosamine (N-acetyl)-6-sulfatase |
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ISO |
ClinVar Annotator: match by term: KBG syndrome |
ClinVar |
PMID:21782149 PMID:25125236 PMID:25413698 PMID:25652421 PMID:28492532 PMID:31602316 PMID:31690835 More...
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NCBI chr 6:869,284...890,137
Ensembl chr 6:869,244...890,134
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GAS8 |
growth arrest specific 8 |
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ISO |
ClinVar Annotator: match by term: KBG syndrome |
ClinVar |
PMID:28492532 PMID:31602316 |
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NCBI chr 6:86,817...105,987
Ensembl chr 6:64,714...105,993
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IL17C |
interleukin 17C |
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ISO |
ClinVar Annotator: match by term: KBG syndrome |
ClinVar |
PMID:21782149 PMID:25125236 PMID:25413698 PMID:25652421 PMID:28492532 PMID:31690835 More...
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NCBI chr 6:1,023,330...1,025,173
Ensembl chr 6:1,022,937...1,025,161
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JPH3 |
junctophilin 3 |
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ISO |
ClinVar Annotator: match by term: KBG syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 6:1,677,132...1,767,010
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KAT6B |
lysine acetyltransferase 6B |
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ISO |
ClinVar Annotator: match by term: KBG syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr14:77,390,790...77,597,674
Ensembl chr14:77,404,136...77,597,673
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KLHDC4 |
kelch domain containing 4 |
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ISO |
ClinVar Annotator: match by term: KBG syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 6:1,627,054...1,672,328
Ensembl chr 6:1,617,653...1,677,127
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MAP1LC3B |
microtubule associated protein 1 light chain 3 beta |
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ISO |
ClinVar Annotator: match by term: KBG syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 6:1,919,879...1,941,069
Ensembl chr 6:1,915,387...1,941,069
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MC1R |
melanocortin 1 receptor |
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ISO |
ClinVar Annotator: match by term: KBG syndrome |
ClinVar |
PMID:28492532 PMID:31602316 |
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NCBI chr 6:181,225...182,187
Ensembl chr 6:181,225...182,187
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MVD |
mevalonate diphosphate decarboxylase |
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ISO |
ClinVar Annotator: match by term: KBG syndrome |
ClinVar |
PMID:21782149 PMID:25125236 PMID:25413698 PMID:25652421 PMID:28492532 PMID:31602316 PMID:31690835 More...
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NCBI chr 6:1,008,100...1,014,303
Ensembl chr 6:1,008,100...1,014,303
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PABPN1L |
PABPN1 like, cytoplasmic |
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ISO |
ClinVar Annotator: match by term: KBG syndrome |
ClinVar |
PMID:21782149 PMID:25125236 PMID:25413698 PMID:25652421 PMID:28492532 PMID:31602316 PMID:31690835 More...
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NCBI chr 6:854,605...861,969
Ensembl chr 6:858,888...861,604
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PIEZO1 |
piezo type mechanosensitive ion channel component 1 |
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ISO |
ClinVar Annotator: match by term: KBG syndrome |
ClinVar |
PMID:21782149 PMID:25125236 PMID:25413698 PMID:25652421 PMID:28492532 PMID:31602316 PMID:31690835 More...
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NCBI chr 6:914,480...967,113
Ensembl chr 6:914,709...967,111
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RNF166 |
ring finger protein 166 |
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ISO |
ClinVar Annotator: match by term: KBG syndrome |
ClinVar |
PMID:21782149 PMID:25125236 PMID:25413698 PMID:25652421 PMID:28492532 PMID:31602316 PMID:31690835 More...
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NCBI chr 6:976,957...982,997
Ensembl chr 6:976,980...982,995
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RPL13 |
ribosomal protein L13 |
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ISO |
ClinVar Annotator: match by term: KBG syndrome |
ClinVar |
PMID:28492532 PMID:31602316 |
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NCBI chr 6:410,923...413,396
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SETD5 |
SET domain containing 5 |
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ISO |
ClinVar Annotator: match by term: KBG syndrome |
ClinVar |
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NCBI chr13:65,759,973...65,851,747
Ensembl chr13:65,759,987...65,850,506
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SLC7A5 |
solute carrier family 7 member 5 |
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ISO |
ClinVar Annotator: match by term: KBG syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 6:1,545,940...1,574,298
Ensembl chr 6:1,545,944...1,574,285
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SNAI3 |
snail family transcriptional repressor 3 |
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ISO |
ClinVar Annotator: match by term: KBG syndrome |
ClinVar |
PMID:21782149 PMID:25125236 PMID:25413698 PMID:25652421 PMID:28492532 PMID:31602316 PMID:31690835 More...
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NCBI chr 6:988,975...996,268
Ensembl chr 6:988,990...996,247
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SPATA2L |
spermatogenesis associated 2 like |
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ISO |
ClinVar Annotator: match by term: KBG syndrome |
ClinVar |
PMID:28492532 PMID:31602316 |
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NCBI chr 6:328,534...331,334
Ensembl chr 6:326,746...331,740
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SPATA33 |
spermatogenesis associated 33 |
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ISO |
ClinVar Annotator: match by term: KBG syndrome |
ClinVar |
PMID:28492532 PMID:31602316 |
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NCBI chr 6:341,276...351,987
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SPG7 |
SPG7 matrix AAA peptidase subunit, paraplegin |
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ISO |
ClinVar Annotator: match by term: KBG syndrome |
ClinVar |
PMID:28492532 PMID:31602316 PMID:31690835 PMID:35682590 |
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NCBI chr 6:414,930...439,206
Ensembl chr 6:414,932...439,212
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SPIRE2 |
spire type actin nucleation factor 2 |
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ISO |
ClinVar Annotator: match by term: KBG syndrome |
ClinVar |
PMID:28492532 PMID:31602316 |
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NCBI chr 6:211,480...246,109
Ensembl chr 6:211,487...243,561
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TBX1 |
T-box transcription factor 1 |
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ISO |
ClinVar Annotator: match by term: KBG syndrome |
ClinVar |
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NCBI chr14:51,289,376...51,297,110
Ensembl chr14:51,289,321...51,296,725
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TCF25 |
transcription factor 25 |
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ISO |
ClinVar Annotator: match by term: KBG syndrome |
ClinVar |
PMID:28492532 PMID:31602316 |
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NCBI chr 6:186,068...208,841
Ensembl chr 6:183,451...208,903
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TRAPPC2L |
trafficking protein particle complex subunit 2L |
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ISO |
ClinVar Annotator: match by term: KBG syndrome |
ClinVar |
PMID:21782149 PMID:25125236 PMID:25413698 PMID:25652421 PMID:25741868 PMID:26467025 PMID:28492532 PMID:31602316 PMID:31690835 More...
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NCBI chr 6:865,498...869,253
Ensembl chr 6:863,805...869,226
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VPS9D1 |
VPS9 domain containing 1 |
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ISO |
ClinVar Annotator: match by term: KBG syndrome |
ClinVar |
PMID:28492532 PMID:31602316 |
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NCBI chr 6:313,713...324,026
Ensembl chr 6:313,783...324,022
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ZC3H18 |
zinc finger CCCH-type containing 18 |
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ISO |
ClinVar Annotator: match by term: KBG syndrome |
ClinVar |
PMID:21782149 PMID:25125236 PMID:25413698 PMID:25652421 PMID:28492532 PMID:31690835 More...
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NCBI chr 6:1,030,416...1,081,541
Ensembl chr 6:1,030,418...1,081,538
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ZCCHC14 |
zinc finger CCHC-type containing 14 |
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ISO |
ClinVar Annotator: match by term: KBG syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 6:1,849,974...1,917,601
Ensembl chr 6:1,850,051...1,918,704
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ZFPM1 |
zinc finger protein, FOG family member 1 |
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ISO |
ClinVar Annotator: match by term: KBG syndrome |
ClinVar |
PMID:21782149 PMID:25125236 PMID:25413698 PMID:25652421 PMID:28492532 PMID:31690835 More...
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NCBI chr 6:1,091,158...1,153,972
Ensembl chr 6:1,091,259...1,107,096
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ZNF276 |
zinc finger protein 276 |
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ISO |
ClinVar Annotator: match by term: KBG syndrome |
ClinVar |
PMID:28492532 PMID:31602316 |
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NCBI chr 6:298,034...316,451
Ensembl chr 6:298,039...313,403
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ZNF469 |
zinc finger protein 469 |
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ISO |
ClinVar Annotator: match by term: KBG syndrome |
ClinVar |
PMID:21782149 PMID:25125236 PMID:25413698 PMID:25652421 PMID:28492532 PMID:31690835 More...
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NCBI chr 6:1,161,514...1,208,406
Ensembl chr 6:1,162,822...1,174,257
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ADCY9 |
adenylate cyclase 9 |
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ISO |
ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 3:38,117,211...38,303,600
Ensembl chr 3:38,103,923...38,303,538
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ANKS3 |
ankyrin repeat and sterile alpha motif domain containing 3 |
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ISO |
ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 3:37,664,182...37,689,502
Ensembl chr 3:37,650,256...37,689,500
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C3H16orf96 |
chromosome 3 C16orf96 homolog |
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ISO |
ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 3:37,765,914...37,801,366
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CDIP1 |
cell death inducing p53 target 1 |
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ISO |
ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 3:37,815,259...37,839,266
Ensembl chr 3:37,815,710...37,839,009
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CREBBP |
CREB binding protein |
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ISO |
ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 3:38,388,366...38,530,243
Ensembl chr 3:38,388,547...38,530,224
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DNAAF8 |
dynein axonemal assembly factor 8 |
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ISO |
ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 3:37,652,535...37,665,497
Ensembl chr 3:37,652,539...37,665,474
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DNAJA3 |
DnaJ heat shock protein family (Hsp40) member A3 |
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ISO |
ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 3:37,883,233...37,919,141
Ensembl chr 3:37,883,244...37,919,324
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GLIS2 |
GLIS family zinc finger 2 |
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ISO |
ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 3:37,998,072...38,018,726
Ensembl chr 3:37,998,078...38,009,024
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HMOX2 |
heme oxygenase 2 |
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ISO |
ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 3:37,829,044...37,868,163
Ensembl chr 3:37,831,439...37,868,128
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LOC100513346 |
mitochondrial import inner membrane translocase subunit TIM16 |
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ISO |
ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 3:37,928,098...38,005,619
Ensembl chr 3:37,928,096...37,985,151
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G |
MGRN1 |
mahogunin ring finger 1 |
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ISO |
ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 3:37,694,798...37,748,106
Ensembl chr 3:37,694,808...37,748,067
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NMRAL1 |
NmrA like redox sensor 1 |
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ISO |
ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 3:37,871,868...37,879,373
Ensembl chr 3:37,871,995...37,881,113
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G |
NUDT16L1 |
nudix hydrolase 16 like 1 |
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ISO |
ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 3:37,684,206...37,694,653
Ensembl chr 3:37,684,207...37,693,652
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ROGDI |
rogdi atypical leucine zipper |
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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 PMID:16411202 PMID:17576681 PMID:22424600 PMID:22482807 PMID:23086778 PMID:24630287 PMID:25565929 PMID:25741868 PMID:26467025 PMID:28492532 PMID:28638151 PMID:33528079 More...
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NCBI chr 3:37,592,982...37,600,004
Ensembl chr 3:37,591,815...37,602,112
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G |
SEPT12 |
septin 12 |
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ISO |
ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 3:37,604,669...37,617,336
Ensembl chr 3:37,606,716...37,627,196
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G |
SMIM22 |
small integral membrane protein 22 |
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ISO |
ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 3:37,599,574...37,601,316
Ensembl chr 3:37,599,576...37,601,086
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G |
SRL |
sarcalumenin |
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ISO |
ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 3:38,073,379...38,111,936
Ensembl chr 3:38,073,562...38,111,932
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G |
TFAP4 |
transcription factor AP-4 |
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ISO |
ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 3:38,043,735...38,060,820
Ensembl chr 3:38,050,308...38,060,817
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G |
UBALD1 |
UBA like domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 3:37,753,262...37,758,872
Ensembl chr 3:37,753,280...37,758,870
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G |
VASN |
vasorin |
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ISO |
ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 3:37,961,425...37,972,477
Ensembl chr 3:37,961,432...37,972,114
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G |
ZNF500 |
zinc finger protein 500 |
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ISO |
ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 3:37,642,424...37,652,378
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G |
FGF10 |
fibroblast growth factor 10 |
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ISO |
ClinVar Annotator: match by term: Levy-Hollister syndrome |
ClinVar |
PMID:16630169 PMID:17213838 PMID:25741868 PMID:26955834 PMID:28492532 |
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NCBI chr16:28,695,465...28,779,953
Ensembl chr16:28,695,470...28,777,509
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G |
FGFR2 |
fibroblast growth factor receptor 2 |
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ISO |
ClinVar Annotator: match by term: LADD syndrome 1 | ClinVar Annotator: match by term: Lacrimoauriculodentodigital syndrome 1 | ClinVar Annotator: match by term: Levy-Hollister syndrome |
OMIM ClinVar |
PMID:7668257 PMID:7719344 PMID:7773284 PMID:7874170 PMID:7987400 PMID:8651276 PMID:8696350 PMID:8957519 PMID:9002682 PMID:9462761 PMID:9677057 PMID:9700203 PMID:9719378 PMID:11121055 PMID:11390973 PMID:12000365 PMID:12124745 PMID:12145519 PMID:12900900 PMID:14499350 PMID:14695532 PMID:14972326 PMID:15389579 PMID:15975938 PMID:16158432 PMID:16418739 PMID:16440883 PMID:16501574 PMID:16531735 PMID:16838304 PMID:16969861 PMID:17251833 PMID:17525745 PMID:18056630 PMID:18414213 PMID:20301628 PMID:20489451 PMID:20856019 PMID:21397175 PMID:22664175 PMID:23430493 PMID:23495007 PMID:23546041 PMID:23632174 PMID:23787031 PMID:24016645 PMID:24127277 PMID:24489893 PMID:24656465 PMID:24728327 PMID:25706251 PMID:25741868 PMID:25867380 PMID:25937001 PMID:26380986 PMID:26467025 PMID:27079505 PMID:27323706 PMID:28492532 PMID:29848297 PMID:31145570 PMID:31502745 PMID:32879300 PMID:36474027 More...
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NCBI chr14:131,183,095...131,285,001
Ensembl chr14:131,181,713...131,289,425
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G |
FGFR3 |
fibroblast growth factor receptor 3 |
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ISO |
ClinVar Annotator: match by term: Lacrimoauriculodentodigital syndrome 1 | ClinVar Annotator: match by term: Levy-Hollister syndrome |
ClinVar |
PMID:1908846 PMID:7647778 PMID:7649548 PMID:7670477 PMID:7702086 PMID:7773297 PMID:7847369 PMID:7913883 PMID:8078586 PMID:8589686 PMID:8589699 PMID:8640234 PMID:8673103 PMID:8723101 PMID:8723106 PMID:8841188 PMID:8858131 PMID:9042914 PMID:9107244 PMID:9207791 PMID:9279753 PMID:9279764 PMID:9300656 PMID:9438390 PMID:9452043 PMID:9525367 PMID:9580776 PMID:9585583 PMID:9600744 PMID:9672519 PMID:9677066 PMID:9843059 PMID:9857065 PMID:9950359 PMID:10053006 PMID:10073901 PMID:10094188 PMID:10360392 PMID:10361991 PMID:10395236 PMID:10425034 PMID:10471491 PMID:10607835 PMID:10671061 PMID:10696568 PMID:10777366 PMID:10861678 PMID:10979354 PMID:11030304 PMID:11038465 PMID:11055896 PMID:11186939 PMID:11186940 PMID:11241532 PMID:11424131 PMID:11529856 PMID:11746040 PMID:11754059 PMID:11879084 PMID:12707965 PMID:12833394 PMID:14613973 PMID:15241680 PMID:15517832 PMID:15772091 PMID:15915095 PMID:16501574 PMID:16766665 PMID:16841094 PMID:16912704 PMID:17033969 PMID:17256796 PMID:17320202 PMID:17384684 PMID:17509076 PMID:17552943 PMID:17875876 PMID:18000976 PMID:18076102 PMID:18198189 PMID:18266238 PMID:18583390 PMID:18642369 PMID:19088846 PMID:19215249 PMID:19749790 PMID:20301331 PMID:20301540 PMID:20301588 PMID:20301628 PMID:20420824 PMID:20453470 PMID:20624921 PMID:21324899 PMID:21510009 PMID:21739570 PMID:22016144 PMID:22045636 PMID:22339077 PMID:22622662 PMID:23056398 PMID:23149434 PMID:23165795 PMID:24120763 PMID:24715719 PMID:24728327 PMID:24864036 PMID:25271085 PMID:25606676 PMID:25614871 PMID:25691418 PMID:25728633 PMID:25741868 PMID:25809207 PMID:26380986 PMID:26740388 PMID:26818779 PMID:28230213 PMID:28492532 PMID:28777845 PMID:29593476 PMID:29620724 PMID:29681095 PMID:29758562 PMID:30138938 PMID:30635042 PMID:30692697 PMID:31218223 PMID:31299979 PMID:31994750 PMID:32238909 PMID:32502767 PMID:32715658 PMID:33942288 PMID:35726512 PMID:36135330 PMID:36474027 More...
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NCBI chr 8:879,151...894,968
Ensembl chr 8:879,159...894,964
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G |
FGFR3 |
fibroblast growth factor receptor 3 |
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ISO |
ClinVar Annotator: match by term: LADD SYNDROME 2 | ClinVar Annotator: match by term: Lacrimoauriculodentodigital syndrome 2 |
OMIM ClinVar |
PMID:1908846 PMID:7773297 PMID:8599935 PMID:8640234 PMID:8723106 PMID:8754806 PMID:8841188 PMID:8845844 PMID:8858131 PMID:9042914 PMID:9107244 PMID:9207791 PMID:9279753 PMID:9279764 PMID:9300656 PMID:9438390 PMID:9525367 PMID:9580776 PMID:9585583 PMID:9600744 PMID:9677066 PMID:9790257 PMID:9843059 PMID:9950359 PMID:10053006 PMID:10073901 PMID:10094188 PMID:10696568 PMID:10861678 PMID:11055896 PMID:11241532 PMID:11424131 PMID:11529856 PMID:11746040 PMID:12009017 PMID:12624096 PMID:12833394 PMID:14613973 PMID:15241680 PMID:15772091 PMID:15843401 PMID:15915095 PMID:16501574 PMID:16752380 PMID:16841094 PMID:16912704 PMID:17552943 PMID:18000976 PMID:18642369 PMID:19088846 PMID:19215249 PMID:19855393 PMID:20301540 PMID:20301588 PMID:20301628 PMID:20420824 PMID:20453470 PMID:20704477 PMID:21273588 PMID:21510009 PMID:22016144 PMID:22045636 PMID:22622662 PMID:23972473 PMID:24075385 PMID:24728327 PMID:24863959 PMID:24864036 PMID:25271085 PMID:25606676 PMID:25614871 PMID:25741868 PMID:26740388 PMID:28483234 PMID:28492532 PMID:29593476 PMID:31299979 PMID:31994750 PMID:32238909 PMID:32715658 PMID:33942288 PMID:34930662 PMID:36135330 PMID:36474027 More...
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NCBI chr 8:879,151...894,968
Ensembl chr 8:879,159...894,964
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G |
FGF10 |
fibroblast growth factor 10 |
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ISO |
ClinVar Annotator: match by term: LADD syndrome 3 | ClinVar Annotator: match by term: Lacrimoauriculodentodigital syndrome 3 |
OMIM ClinVar |
PMID:15654336 PMID:16501574 PMID:16630169 PMID:25741868 PMID:28492532 PMID:37077496 More...
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NCBI chr16:28,695,465...28,779,953
Ensembl chr16:28,695,470...28,777,509
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G |
FGF10 |
fibroblast growth factor 10 |
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ISO |
ClinVar Annotator: match by term: LADD syndrome | ClinVar Annotator: match by term: Levy-Hollister syndrome |
ClinVar |
PMID:16630169 PMID:17213838 PMID:25741868 PMID:26955834 PMID:28492532 |
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NCBI chr16:28,695,465...28,779,953
Ensembl chr16:28,695,470...28,777,509
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G |
FGFR2 |
fibroblast growth factor receptor 2 |
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ISO |
ClinVar Annotator: match by term: LADD syndrome | ClinVar Annotator: match by term: Levy-Hollister syndrome |
ClinVar |
PMID:7668257 PMID:7719344 PMID:7773284 PMID:7874170 PMID:7987400 PMID:8651276 PMID:8696350 PMID:8957519 PMID:9002682 PMID:9462761 PMID:9677057 PMID:9700203 PMID:9719378 PMID:11121055 PMID:11390973 PMID:12000365 PMID:12124745 PMID:12145519 PMID:12900900 PMID:14499350 PMID:14695532 PMID:14972326 PMID:15389579 PMID:15975938 PMID:16158432 PMID:16418739 PMID:16440883 PMID:16501574 PMID:16531735 PMID:16838304 PMID:16969861 PMID:17251833 PMID:17525745 PMID:18056630 PMID:18414213 PMID:20301628 PMID:20489451 PMID:20856019 PMID:21397175 PMID:22664175 PMID:23430493 PMID:23495007 PMID:23546041 PMID:23632174 PMID:23787031 PMID:24016645 PMID:24127277 PMID:24489893 PMID:24656465 PMID:24728327 PMID:25706251 PMID:25741868 PMID:25867380 PMID:25937001 PMID:26380986 PMID:26467025 PMID:27079505 PMID:27323706 PMID:28492532 PMID:29848297 PMID:31145570 PMID:31502745 PMID:32879300 PMID:36474027 More...
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NCBI chr14:131,183,095...131,285,001
Ensembl chr14:131,181,713...131,289,425
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G |
FGFR3 |
fibroblast growth factor receptor 3 |
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ISO |
ClinVar Annotator: match by term: LADD syndrome | ClinVar Annotator: match by term: Levy-Hollister syndrome |
ClinVar |
PMID:1908846 PMID:7647778 PMID:7649548 PMID:7670477 PMID:7702086 PMID:7773297 PMID:7847369 PMID:7913883 PMID:8078586 PMID:8589686 PMID:8589699 PMID:8640234 PMID:8673103 PMID:8723106 PMID:8841188 PMID:8858131 PMID:9042914 PMID:9107244 PMID:9207791 PMID:9279753 PMID:9279764 PMID:9300656 PMID:9438390 PMID:9452043 PMID:9525367 PMID:9580776 PMID:9585583 PMID:9600744 PMID:9672519 PMID:9677066 PMID:9843059 PMID:9857065 PMID:9950359 PMID:10053006 PMID:10073901 PMID:10094188 PMID:10360392 PMID:10361991 PMID:10395236 PMID:10425034 PMID:10471491 PMID:10607835 PMID:10671061 PMID:10696568 PMID:10777366 PMID:10861678 PMID:10979354 PMID:11030304 PMID:11038465 PMID:11055896 PMID:11186939 PMID:11186940 PMID:11241532 PMID:11424131 PMID:11529856 PMID:11746040 PMID:11754059 PMID:11879084 PMID:12707965 PMID:12833394 PMID:14613973 PMID:15241680 PMID:15517832 PMID:15772091 PMID:15915095 PMID:16501574 PMID:16766665 PMID:16841094 PMID:16912704 PMID:17033969 PMID:17320202 PMID:17384684 PMID:17509076 PMID:17552943 PMID:17875876 PMID:18000976 PMID:18076102 PMID:18198189 PMID:18266238 PMID:18583390 PMID:18642369 PMID:19088846 PMID:19215249 PMID:19749790 PMID:20301331 PMID:20301540 PMID:20301588 PMID:20301628 PMID:20420824 PMID:20453470 PMID:20624921 PMID:21324899 PMID:21510009 PMID:21739570 PMID:22016144 PMID:22045636 PMID:22622662 PMID:23056398 PMID:23149434 PMID:23165795 PMID:24120763 PMID:24715719 PMID:24728327 PMID:24864036 PMID:25271085 PMID:25606676 PMID:25614871 PMID:25691418 PMID:25728633 PMID:25741868 PMID:25809207 PMID:26380986 PMID:26740388 PMID:26818779 PMID:28230213 PMID:28492532 PMID:28777845 PMID:29593476 PMID:29620724 PMID:29681095 PMID:29758562 PMID:30138938 PMID:30635042 PMID:30692697 PMID:31218223 PMID:31299979 PMID:31994750 PMID:32238909 PMID:32502767 PMID:32715658 PMID:33942288 PMID:35726512 PMID:36135330 PMID:36474027 More...
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NCBI chr 8:879,151...894,968
Ensembl chr 8:879,159...894,964
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G |
CAMK2A |
calcium/calmodulin dependent protein kinase II alpha |
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ISO |
ClinVar Annotator: match by term: Larsen syndrome, dominant type |
ClinVar |
PMID:25741868 |
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NCBI chr 2:151,248,356...151,353,907
Ensembl chr 2:151,248,358...151,308,706
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G |
CHST3 |
carbohydrate sulfotransferase 3 |
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ISO |
ClinVar Annotator: match by term: Larsen syndrome |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr14:74,850,931...74,891,527
Ensembl chr14:74,850,931...74,891,520
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G |
FGFR3 |
fibroblast growth factor receptor 3 |
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ISO |
ClinVar Annotator: match by term: Larsen syndrome |
ClinVar |
PMID:7670477 PMID:8589686 PMID:9452043 PMID:9672519 PMID:10360392 PMID:10361991 PMID:10395236 PMID:10777366 PMID:11055896 PMID:11754059 PMID:12707965 PMID:16912704 PMID:18198189 PMID:19088846 PMID:22045636 PMID:23149434 PMID:23165795 PMID:24715719 PMID:25614871 PMID:25741868 PMID:26380986 PMID:28492532 PMID:29620724 PMID:35726512 More...
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NCBI chr 8:879,151...894,968
Ensembl chr 8:879,159...894,964
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G |
FLNB |
filamin B |
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ISO |
ClinVar Annotator: match by term: FLNB-Related Spectrum Disorders | ClinVar Annotator: match by term: Larsen syndrome | ClinVar Annotator: match by term: Larsen syndrome, dominant type |
OMIM ClinVar |
PMID:9536098 PMID:14991055 PMID:16648377 PMID:16752402 PMID:16801345 PMID:17576681 PMID:18322662 PMID:19085972 PMID:20301736 PMID:21620354 PMID:22190451 PMID:24123776 PMID:25741868 PMID:26380986 PMID:26491051 PMID:27048506 PMID:28229453 PMID:28492532 PMID:29566257 PMID:30544257 PMID:30712878 PMID:31836586 More...
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NCBI chr13:39,789,259...39,938,751
Ensembl chr13:39,789,739...39,938,746
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G |
ADGRG2 |
adhesion G protein-coupled receptor G2 |
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ISO |
ClinVar Annotator: match by term: Nance-Horan syndrome |
ClinVar |
PMID:9837815 PMID:10679936 PMID:14564667 PMID:17256798 PMID:17304053 PMID:18076117 PMID:19414485 PMID:19780792 PMID:19888300 PMID:20591708 PMID:20882036 PMID:21770923 PMID:21914562 PMID:22473288 PMID:22872100 PMID:23184456 PMID:25315662 PMID:28492532 PMID:30945684 PMID:31916079 More...
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NCBI chr X:15,370,327...15,518,746
Ensembl chr X:15,371,805...15,463,619
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G |
BCLAF3 |
BCLAF1 and THRAP3 family member 3 |
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ISO |
ClinVar Annotator: match by term: Nance-Horan syndrome |
ClinVar |
PMID:9837815 PMID:10679936 PMID:14564667 PMID:17256798 PMID:17304053 PMID:18076117 PMID:19414485 PMID:19780792 PMID:19888300 PMID:20591708 PMID:20882036 PMID:21770923 PMID:21914562 PMID:22473288 PMID:22872100 PMID:23184456 PMID:25315662 PMID:28492532 PMID:30945684 PMID:31916079 More...
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NCBI chr X:16,252,407...16,312,426
Ensembl chr X:16,252,420...16,312,439
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G |
BEND2 |
BEN domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Nance-Horan syndrome |
ClinVar |
PMID:9837815 PMID:10679936 PMID:14564667 PMID:17256798 PMID:17304053 PMID:18076117 PMID:19414485 PMID:19780792 PMID:19888300 PMID:20591708 PMID:20882036 PMID:21770923 PMID:21914562 PMID:22473288 PMID:22872100 PMID:23184456 PMID:25315662 PMID:28492532 PMID:30945684 PMID:31916079 More...
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NCBI chr X:14,635,795...14,703,934
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G |
CDKL5 |
cyclin dependent kinase like 5 |
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ISO |
ClinVar Annotator: match by term: Nance-Horan syndrome |
ClinVar |
PMID:9837815 PMID:10679936 PMID:14564667 PMID:17256798 PMID:17304053 PMID:18076117 PMID:19414485 PMID:19780792 PMID:19888300 PMID:20591708 PMID:20882036 PMID:21770923 PMID:21914562 PMID:22473288 PMID:22872100 PMID:23184456 PMID:25315662 PMID:28492532 PMID:30945684 PMID:31916079 More...
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NCBI chr X:14,858,826...15,096,969
Ensembl chr X:14,952,225...15,078,855
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G |
EIF1AX |
eukaryotic translation initiation factor 1A X-linked |
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ISO |
ClinVar Annotator: match by term: Nance-Horan syndrome |
ClinVar |
PMID:9837815 PMID:10679936 PMID:14564667 PMID:17256798 PMID:17304053 PMID:18076117 PMID:19414485 PMID:19780792 PMID:19888300 PMID:20591708 PMID:20882036 PMID:21770923 PMID:21914562 PMID:22473288 PMID:22872100 PMID:23184456 PMID:25315662 PMID:28492532 PMID:30945684 PMID:31916079 More...
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NCBI chr X:16,429,625...16,449,581
Ensembl chr X:16,429,628...16,449,556
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G |
MAP3K15 |
mitogen-activated protein kinase kinase kinase 15 |
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ISO |
ClinVar Annotator: match by term: Nance-Horan syndrome |
ClinVar |
PMID:9837815 PMID:10679936 PMID:14564667 PMID:17256798 PMID:17304053 PMID:18076117 PMID:19414485 PMID:19780792 PMID:19888300 PMID:20591708 PMID:20882036 PMID:21770923 PMID:21914562 PMID:22473288 PMID:22872100 PMID:23184456 PMID:25315662 PMID:28492532 PMID:30945684 PMID:31916079 More...
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NCBI chr X:15,716,898...15,867,377
Ensembl chr X:15,715,991...15,867,120
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G |
MAP7D2 |
MAP7 domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Nance-Horan syndrome |
ClinVar |
PMID:9837815 PMID:10679936 PMID:14564667 PMID:17256798 PMID:17304053 PMID:18076117 PMID:19414485 PMID:19780792 PMID:19888300 PMID:20591708 PMID:20882036 PMID:21770923 PMID:21914562 PMID:22473288 PMID:22872100 PMID:23184456 PMID:25315662 PMID:28492532 PMID:30945684 PMID:31916079 More...
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NCBI chr X:16,327,718...16,423,546
Ensembl chr X:16,327,968...16,422,772
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G |
NHS |
NHS actin remodeling regulator |
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ISO |
ClinVar Annotator: match by term: NHS-related condition | ClinVar Annotator: match by term: Nance-Horan syndrome |
OMIM ClinVar |
PMID:458526 PMID:2246772 PMID:9536098 PMID:9837815 PMID:10679936 PMID:14564667 PMID:15466011 PMID:15623749 PMID:16199547 PMID:16736028 PMID:17256798 PMID:17304053 PMID:17576681 PMID:18018428 PMID:18076117 PMID:18414213 PMID:18949062 PMID:19414485 PMID:19780792 PMID:19888300 PMID:20591708 PMID:20882036 PMID:21770923 PMID:21914562 PMID:22473288 PMID:22872100 PMID:23184456 PMID:23757202 PMID:24968223 PMID:25266737 PMID:25315662 PMID:25640679 PMID:25741868 PMID:26633542 PMID:27148795 PMID:27159028 PMID:28492532 PMID:29611406 PMID:30642278 PMID:30945684 PMID:31916079 More...
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NCBI chr X:13,854,950...14,209,085
Ensembl chr X:14,097,006...14,206,568
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G |
PDHA1 |
pyruvate dehydrogenase E1 subunit alpha 1 |
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ISO |
ClinVar Annotator: match by term: Nance-Horan syndrome |
ClinVar |
PMID:9837815 PMID:10679936 PMID:14564667 PMID:17256798 PMID:17304053 PMID:18076117 PMID:19414485 PMID:19780792 PMID:19888300 PMID:20591708 PMID:20882036 PMID:21770923 PMID:21914562 PMID:22473288 PMID:22872100 PMID:23184456 PMID:25315662 PMID:28492532 PMID:30945684 PMID:31916079 More...
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NCBI chr X:15,699,924...15,718,908
Ensembl chr X:15,700,050...15,718,903
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G |
PHKA2 |
phosphorylase kinase regulatory subunit alpha 2 |
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ISO |
ClinVar Annotator: match by term: Nance-Horan syndrome |
ClinVar |
PMID:9837815 PMID:10679936 PMID:14564667 PMID:17256798 PMID:17304053 PMID:18076117 PMID:19414485 PMID:19780792 PMID:19888300 PMID:20591708 PMID:20882036 PMID:21770923 PMID:21914562 PMID:22473288 PMID:22872100 PMID:23184456 PMID:25315662 PMID:28492532 PMID:30945684 PMID:31916079 More...
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NCBI chr X:15,279,398...15,365,731
Ensembl chr X:15,283,120...15,365,565
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G |
PPEF1 |
protein phosphatase with EF-hand domain 1 |
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ISO |
ClinVar Annotator: match by term: Nance-Horan syndrome |
ClinVar |
PMID:9837815 PMID:10679936 PMID:14564667 PMID:17256798 PMID:17304053 PMID:18076117 PMID:19414485 PMID:19780792 PMID:19888300 PMID:20591708 PMID:20882036 PMID:21770923 PMID:21914562 PMID:22473288 PMID:22872100 PMID:23184456 PMID:25315662 PMID:28492532 PMID:30945684 PMID:31916079 More...
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NCBI chr X:15,111,230...15,251,415
Ensembl chr X:15,138,350...15,251,228
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G |
RAI2 |
retinoic acid induced 2 |
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ISO |
ClinVar Annotator: match by term: Nance-Horan syndrome |
ClinVar |
PMID:9837815 PMID:10679936 PMID:14564667 PMID:17256798 PMID:17304053 PMID:18076117 PMID:19414485 PMID:19780792 PMID:19888300 PMID:20591708 PMID:20882036 PMID:21770923 PMID:21914562 PMID:22473288 PMID:22872100 PMID:23184456 PMID:25315662 PMID:28492532 PMID:30945684 PMID:31916079 More...
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NCBI chr X:14,246,776...14,633,071
Ensembl chr X:14,244,317...14,309,143
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G |
RPS6KA3 |
ribosomal protein S6 kinase A3 |
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ISO |
ClinVar Annotator: match by term: Nance-Horan syndrome |
ClinVar |
PMID:9837815 PMID:10679936 PMID:14564667 PMID:17256798 PMID:17304053 PMID:18076117 PMID:19414485 PMID:19780792 PMID:19888300 PMID:20591708 PMID:20882036 PMID:21770923 PMID:21914562 PMID:22473288 PMID:22872100 PMID:23184456 PMID:25315662 PMID:28492532 PMID:30945684 PMID:31916079 More...
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NCBI chr X:16,452,401...16,576,854
Ensembl chr X:16,452,405...16,576,859
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G |
RS1 |
retinoschisin 1 |
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ISO |
ClinVar Annotator: match by term: Nance-Horan syndrome |
ClinVar |
PMID:9837815 PMID:10679936 PMID:14564667 PMID:17256798 PMID:17304053 PMID:18076117 PMID:19414485 PMID:19780792 PMID:19888300 PMID:20591708 PMID:20882036 PMID:21770923 PMID:21914562 PMID:22473288 PMID:22872100 PMID:23184456 PMID:25315662 PMID:28492532 PMID:30945684 PMID:31916079 More...
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NCBI chr X:15,080,972...15,099,426
Ensembl chr X:15,085,050...15,109,243
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G |
SCML1 |
Scm polycomb group protein like 1 |
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ISO |
ClinVar Annotator: match by term: Nance-Horan syndrome |
ClinVar |
PMID:9837815 PMID:10679936 PMID:14564667 PMID:17256798 PMID:17304053 PMID:18076117 PMID:19414485 PMID:19780792 PMID:19888300 PMID:20591708 PMID:20882036 PMID:21770923 PMID:21914562 PMID:22473288 PMID:22872100 PMID:23184456 PMID:25315662 PMID:28492532 PMID:30945684 PMID:31916079 More...
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NCBI chr X:14,210,164...14,222,053
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G |
SCML2 |
Scm polycomb group protein like 2 |
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ISO |
ClinVar Annotator: match by term: Nance-Horan syndrome |
ClinVar |
PMID:9837815 PMID:10679936 PMID:14564667 PMID:17256798 PMID:17304053 PMID:18076117 PMID:19414485 PMID:19780792 PMID:19888300 PMID:20591708 PMID:20882036 PMID:21770923 PMID:21914562 PMID:22473288 PMID:22872100 PMID:23184456 PMID:25315662 PMID:28492532 PMID:30945684 PMID:31916079 More...
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NCBI chr X:14,715,357...14,823,016
Ensembl chr X:14,717,606...14,823,413
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G |
SH3KBP1 |
SH3 domain containing kinase binding protein 1 |
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ISO |
ClinVar Annotator: match by term: Nance-Horan syndrome |
ClinVar |
PMID:9837815 PMID:10679936 PMID:14564667 PMID:17256798 PMID:17304053 PMID:18076117 PMID:19414485 PMID:19780792 PMID:19888300 PMID:20591708 PMID:20882036 PMID:21770923 PMID:21914562 PMID:22473288 PMID:22872100 PMID:23184456 PMID:25315662 PMID:28492532 PMID:30945684 PMID:31916079 More...
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NCBI chr X:15,887,131...16,229,212
Ensembl chr X:15,885,069...16,224,183
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G |
GJA1 |
gap junction protein alpha 1 |
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ISO |
ClinVar Annotator: match by term: Oculodentodigital dysplasia |
OMIM ClinVar |
PMID:220941 PMID:1057461 PMID:2309863 PMID:4209752 PMID:7815444 PMID:10331943 PMID:11470490 PMID:12457340 PMID:14729836 PMID:15108203 PMID:15192806 PMID:15551259 PMID:15637728 PMID:15879313 PMID:16709485 PMID:17256797 PMID:17901047 PMID:18003637 PMID:18079109 PMID:18946008 PMID:19057520 PMID:19338053 PMID:19638688 PMID:21215473 PMID:21670345 PMID:22090377 PMID:22179534 PMID:23103513 PMID:23304551 PMID:23465283 PMID:23550541 PMID:24115525 PMID:25327171 PMID:25388818 PMID:25741868 PMID:27226478 PMID:27228968 PMID:28492532 PMID:29902798 PMID:30628995 PMID:30631135 PMID:32318302 PMID:33080786 PMID:34035645 PMID:34630166 PMID:35023121 More...
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NCBI chr 1:40,988,818...41,002,129
Ensembl chr 1:40,988,528...41,002,156
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G |
GJA1 |
gap junction protein alpha 1 |
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ISO |
ClinVar Annotator: match by term: Oculodentodigital dysplasia, autosomal recessive |
OMIM ClinVar |
PMID:2309863 PMID:11146471 PMID:11470490 PMID:12457340 PMID:14729836 PMID:14974090 PMID:14981729 PMID:15108203 PMID:15192806 PMID:15757815 PMID:15879313 PMID:16378922 PMID:16709485 PMID:16813608 PMID:16816024 PMID:17509830 PMID:17901047 PMID:18003637 PMID:18077386 PMID:18079109 PMID:18660473 PMID:18946008 PMID:19057520 PMID:19338053 PMID:19615768 PMID:19638688 PMID:20130915 PMID:21215473 PMID:21670345 PMID:22090377 PMID:22179534 PMID:22826718 PMID:23103513 PMID:23304551 PMID:23465283 PMID:23606748 PMID:23951358 PMID:24115525 PMID:24508941 PMID:25327171 PMID:25388818 PMID:25398053 PMID:25741868 PMID:26004348 PMID:26537360 PMID:27216975 PMID:27226478 PMID:28258662 PMID:28492532 PMID:29927410 PMID:30628963 PMID:30628995 PMID:30631135 PMID:30653986 PMID:30811667 PMID:31347275 PMID:32318302 PMID:32449269 PMID:33080786 PMID:34630166 PMID:35023121 More...
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NCBI chr 1:40,988,818...41,002,129
Ensembl chr 1:40,988,528...41,002,156
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G |
TBC1D32 |
TBC1 domain family member 32 |
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ISO |
ClinVar Annotator: match by term: Oculodentodigital dysplasia, autosomal recessive |
ClinVar |
PMID:28492532 |
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NCBI chr 1:41,057,782...41,265,416
Ensembl chr 1:41,057,838...41,265,375
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G |
PIK3C2A |
phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha |
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ISO |
ClinVar Annotator: match by term: CATARACTS, EARLY-ONSET, WITH SKELETAL AND DENTAL ANOMALIES | ClinVar Annotator: match by term: PIK3C2A-related condition |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:31034465 |
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NCBI chr 2:41,829,969...42,024,062
Ensembl chr 2:41,829,916...42,024,362
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G |
ASCL5 |
achaete-scute family bHLH transcription factor 5 |
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ISO |
ClinVar Annotator: match by term: Teeth, odd shapes of |
ClinVar |
PMID:25741868 |
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NCBI chr10:23,568,676...23,569,987
Ensembl chr10:23,569,391...23,569,927
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G |
TRIP11 |
thyroid hormone receptor interactor 11 |
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ISO |
ClinVar Annotator: match by term: Odontochondrodysplasia 1 |
OMIM ClinVar |
PMID:20089971 PMID:23956106 PMID:25741868 PMID:28492532 PMID:29872333 PMID:30728324 More...
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NCBI chr 7:113,524,406...113,600,411
Ensembl chr 7:113,524,430...113,600,088
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G |
MIA3 |
MIA SH3 domain ER export factor 3 |
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ISO |
ClinVar Annotator: match by term: Odontochondrodysplasia 2 with hearing loss and diabetes |
OMIM ClinVar |
PMID:25741868 |
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NCBI chr10:11,362,489...11,428,844
Ensembl chr10:11,377,846...11,429,015
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G |
WNT10A |
Wnt family member 10A |
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ISO |
ClinVar Annotator: match by term: Odontoonychodermal dysplasia |
OMIM ClinVar |
PMID:2897600 PMID:9536098 PMID:16199547 PMID:17576681 PMID:17847007 PMID:19471313 PMID:19559398 PMID:20163410 PMID:20979233 PMID:21143469 PMID:21279306 PMID:21484994 PMID:21834823 PMID:22581971 PMID:22670871 PMID:23167694 PMID:23401279 PMID:23991204 PMID:24043634 PMID:24311251 PMID:24312213 PMID:24398796 PMID:24449199 PMID:24458874 PMID:24700731 PMID:24702986 PMID:24902757 PMID:25356970 PMID:25545742 PMID:25629078 PMID:25713620 PMID:25741868 PMID:26087098 PMID:26964878 PMID:27657131 PMID:27881089 PMID:28105635 PMID:28492532 PMID:28589954 PMID:28813618 PMID:28976000 PMID:28981473 PMID:29178643 PMID:29271000 PMID:29314690 PMID:29364747 PMID:29431110 PMID:29758562 PMID:30046887 PMID:30426266 PMID:30526585 PMID:30569517 PMID:30974434 PMID:31103801 PMID:33034246 PMID:34228861 PMID:34593752 PMID:35537890 PMID:36071541 More...
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NCBI chr15:120,925,204...120,939,032
Ensembl chr15:120,925,499...120,938,430
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G |
AXIN2 |
axin 2 |
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ISO |
ClinVar Annotator: match by term: AXIN2-related attenuated familial adenomatous polyposis | ClinVar Annotator: match by term: Oligodontia-cancer predisposition syndrome ClinVar Annotator: match by term: AXIN2-related attenuated familial adenomatous polyposis | ClinVar Annotator: match by term: Oligodontia-colorectal cancer syndrome | ClinVar Annotator: match by term: TOOTH AGENESIS-COLORECTAL CANCER SYNDROME |
OMIM ClinVar |
PMID:9536098 PMID:10330403 PMID:11017067 PMID:12101426 PMID:15042511 PMID:15735151 PMID:15841489 PMID:16199547 PMID:16820935 PMID:16941501 PMID:17373666 PMID:17576681 PMID:19065536 PMID:21069480 PMID:21294210 PMID:21416598 PMID:21472303 PMID:21476993 PMID:21520333 PMID:21541676 PMID:21626677 PMID:22581971 PMID:23169527 PMID:23838596 PMID:24033266 PMID:24581859 PMID:25151137 PMID:25236910 PMID:25260786 PMID:25637381 PMID:25640679 PMID:25741868 PMID:26467025 PMID:26580448 PMID:26681312 PMID:27009842 PMID:27090353 PMID:27153395 PMID:27234654 PMID:27300758 PMID:27491081 PMID:27696107 PMID:28112737 PMID:28265457 PMID:28492532 PMID:28569743 PMID:28577310 PMID:28717660 PMID:28944238 PMID:29114927 PMID:29212164 PMID:29341116 PMID:29371908 PMID:29458332 PMID:29625052 PMID:29641532 PMID:30093976 PMID:30262796 PMID:30322717 PMID:30374176 PMID:30555066 PMID:30760879 PMID:30822429 PMID:31285513 PMID:31721781 PMID:31769227 PMID:31811167 PMID:31819260 PMID:31874108 PMID:32807118 PMID:32984025 PMID:33193653 PMID:33359728 PMID:33558524 PMID:33606809 PMID:33725141 PMID:34196900 PMID:34817745 PMID:35014770 PMID:35904628 PMID:36071541 PMID:36502525 PMID:36672847 PMID:37231433 PMID:37891325 PMID:38136308 PMID:38509102 PMID:38887977 More...
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NCBI chr12:12,311,293...12,343,207
Ensembl chr12:12,311,298...12,343,200
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G |
GNA13 |
G protein subunit alpha 13 |
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ISO |
ClinVar Annotator: match by term: Oligodontia-cancer predisposition syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr12:11,922,630...11,966,913
Ensembl chr12:11,922,632...11,966,610
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G |
RGS9 |
regulator of G protein signaling 9 |
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ISO |
ClinVar Annotator: match by term: Oligodontia-cancer predisposition syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr12:12,015,321...12,087,982
Ensembl chr12:12,015,321...12,087,976
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G |
ACSF2 |
acyl-CoA synthetase family member 2 |
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ISO |
ClinVar Annotator: match by term: Osteogenesis imperfecta type I |
ClinVar |
PMID:25741868 |
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NCBI chr12:26,713,790...26,752,352
Ensembl chr12:26,713,785...26,761,140
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G |
CASD1 |
CAS1 domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Osteogenesis imperfecta type I |
ClinVar |
PMID:11288717 PMID:15077201 PMID:28492532 |
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NCBI chr 9:74,276,533...74,347,608
Ensembl chr 9:74,276,908...74,347,588
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G |
COL1A1 |
collagen type I alpha 1 chain |
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ISO |
ClinVar Annotator: match by term: Osteogenesis imperfecta type 1 | ClinVar Annotator: match by term: Osteogenesis imperfecta type 1 with dentinogenesis imperfecta | ClinVar Annotator: match by term: Osteogenesis imperfecta type I ClinVar Annotator: match by term: OI, TYPE I | ClinVar Annotator: match by term: Osteogenesis imperfecta type 1 with dentinogenesis imperfecta | ClinVar Annotator: match by term: Osteogenesis imperfecta type I | ClinVar Annotator: match by term: Osteogenesis imperfecta with opalescent teeth ClinVar Annotator: match by term: Osteogenesis imperfecta type 1 with dentinogenesis imperfecta | ClinVar Annotator: match by term: Osteogenesis imperfecta type 1A | ClinVar Annotator: match by term: Osteogenesis imperfecta type I |
OMIM ClinVar |
PMID:1445258 PMID:1460046 PMID:1634225 PMID:1718984 PMID:1737847 PMID:1770532 PMID:1867198 PMID:1895312 PMID:1988452 PMID:2035536 PMID:2037280 PMID:2238087 PMID:2295701 PMID:2542316 PMID:2709835 PMID:2767050 PMID:2794057 PMID:2894346 PMID:3016737 PMID:3082886 PMID:3403550 PMID:6462220 PMID:7487936 PMID:7691343 PMID:7695699 PMID:7789952 PMID:7881420 PMID:7942841 PMID:8079666 PMID:8094076 PMID:8100856 PMID:8125479 PMID:8218237 PMID:8349697 PMID:8408653 PMID:8456806 PMID:8456808 PMID:8456809 PMID:8613526 PMID:8669434 PMID:8723681 PMID:8757037 PMID:8799376 PMID:8808594 PMID:9016532 PMID:9067755 PMID:9101304 PMID:9143923 PMID:9203215 PMID:9295084 PMID:9443882 PMID:9536098 PMID:9600458 PMID:10408781 PMID:10739762 PMID:10931857 PMID:11090261 PMID:11113887 PMID:11317364 PMID:11432962 PMID:11826020 PMID:12362985 PMID:12590186 PMID:15024692 PMID:15024745 PMID:15046069 PMID:15106082 PMID:15235039 PMID:15241796 PMID:15502558 PMID:15728585 PMID:15741671 PMID:15864348 PMID:15931785 PMID:16199547 PMID:16407265 PMID:16474405 PMID:16638323 PMID:16705691 PMID:16773572 PMID:16786509 PMID:16879195 PMID:17056636 PMID:17078022 PMID:17206620 PMID:17211858 PMID:17309652 PMID:17392686 PMID:17576681 PMID:17875077 PMID:18028452 PMID:18272325 PMID:18311573 PMID:18412368 PMID:18553566 PMID:18670065 PMID:18704262 PMID:18798308 PMID:18845533 PMID:18996919 PMID:19199251 PMID:19344236 PMID:19358256 PMID:19491628 PMID:19550437 PMID:19637253 PMID:19751715 PMID:20301472 PMID:20696291 PMID:20981092 PMID:21239989 PMID:21249479 PMID:21344539 PMID:21520333 PMID:21567126 PMID:21594610 PMID:21667357 PMID:21834035 PMID:21884818 PMID:22206639 PMID:22565191 PMID:22570641 PMID:22589248 PMID:22753364 PMID:22855962 PMID:22913777 PMID:23054245 PMID:23079818 PMID:23265383 PMID:23443412 PMID:23529829 PMID:23548228 PMID:23587214 PMID:23692737 PMID:23729740 PMID:23929220 PMID:23949819 PMID:24088041 PMID:24123366 PMID:24147872 PMID:24185511 PMID:24273577 PMID:24311407 PMID:24390061 PMID:24486247 PMID:24501682 PMID:24668929 PMID:24767406 PMID:24891183 PMID:25086671 PMID:25146735 PMID:25324685 PMID:25436829 PMID:25525159 PMID:25597651 PMID:25633413 PMID:25640679 PMID:25696019 PMID:25741868 PMID:25741914 PMID:25742658 PMID:25944380 PMID:25963598 PMID:25983617 PMID:26138843 PMID:26177859 PMID:26188975 PMID:26235824 PMID:26264579 PMID:26371943 PMID:26402641 PMID:26432670 PMID:26467025 PMID:26478226 PMID:26604951 PMID:26627451 PMID:26633542 PMID:26633545 PMID:26712438 PMID:26799614 PMID:26863094 PMID:27011056 PMID:27023906 PMID:27044453 PMID:27059743 PMID:27060301 PMID:27090748 PMID:27132807 PMID:27146342 PMID:27335225 PMID:27380894 PMID:27484908 PMID:27509835 PMID:27510842 PMID:27519266 PMID:27549894 PMID:27577215 PMID:27748872 PMID:28102596 PMID:28116328 PMID:28166811 PMID:28173822 PMID:28252636 PMID:28326186 PMID:28378289 PMID:28436160 PMID:28492532 PMID:28498836 PMID:28528406 PMID:28636882 PMID:28725987 PMID:28748566 PMID:28810924 PMID:28817112 PMID:28991257 PMID:29101475 PMID:29150909 PMID:29432813 PMID:29499418 PMID:29502568 PMID:29543232 PMID:29552444 PMID:29595812 PMID:29620724 PMID:29635034 PMID:29669177 PMID:29695797 PMID:29807018 PMID:29946973 PMID:30131598 PMID:30266093 PMID:30450527 PMID:30567240 PMID:30614853 PMID:30665703 PMID:30675999 PMID:30684648 PMID:30692697 PMID:30715774 PMID:30886339 PMID:31055083 PMID:31218168 PMID:31236376 PMID:31239369 PMID:31299979 PMID:31304589 PMID:31319225 PMID:31363794 PMID:31414283 PMID:31429852 PMID:31447884 PMID:31506931 PMID:31584903 PMID:31680973 PMID:31737030 PMID:31794058 PMID:31994750 PMID:32123938 PMID:32166892 PMID:32214361 PMID:32235935 PMID:32581362 PMID:32595695 PMID:32627857 PMID:32667677 PMID:32860008 PMID:32981126 PMID:33070251 PMID:33110269 PMID:33161638 PMID:33195954 PMID:33228694 PMID:33470886 PMID:33772059 PMID:33928192 PMID:33939306 PMID:33942288 PMID:34007986 PMID:34008892 PMID:34091789 PMID:34249109 PMID:34358384 PMID:34394176 PMID:34422331 PMID:34426522 PMID:34529350 PMID:34902613 PMID:34906519 PMID:34964960 PMID:35119775 PMID:35128800 PMID:35154279 PMID:35252483 PMID:35274497 PMID:35723357 PMID:35909573 PMID:35918752 PMID:36404349 PMID:36709916 PMID:36819366 PMID:36951356 PMID:37019085 PMID:37270749 PMID:38102329 PMID:38534782 PMID:38744219 More...
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NCBI chr12:26,379,087...26,397,180
Ensembl chr12:26,379,090...26,397,004
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G |
COL1A2 |
collagen type I alpha 2 chain |
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ISO |
ClinVar Annotator: match by term: OI, TYPE I | ClinVar Annotator: match by term: Osteogenesis imperfecta tarda | ClinVar Annotator: match by term: Osteogenesis imperfecta type 1 | ClinVar Annotator: match by term: Osteogenesis imperfecta type 1 with dentinogenesis imperfecta | ClinVar Annotator: match by term: Osteogenesis imperfecta type 1A | ClinVar Annotator: match by term: Osteogenesis imperfecta type I | ClinVar Annotator: match by term: Osteogenesis imperfecta with opalescent teeth |
ClinVar |
PMID:458828 PMID:1634225 PMID:1642148 PMID:1978725 PMID:1990009 PMID:2010058 PMID:2052622 PMID:2454224 PMID:2777808 PMID:2824475 PMID:2985635 PMID:2993307 PMID:3372533 PMID:3403536 PMID:3680255 PMID:4742738 PMID:4795106 PMID:6092353 PMID:6773953 PMID:7487936 PMID:7695699 PMID:7720740 PMID:7860070 PMID:7891382 PMID:7959683 PMID:8005592 PMID:8071956 PMID:8081389 PMID:8081394 PMID:8094076 PMID:8218237 PMID:8456807 PMID:8456808 PMID:8800927 PMID:8829649 PMID:8829655 PMID:8872706 PMID:9016532 PMID:9099837 PMID:9240878 PMID:9272740 PMID:9295084 PMID:9399846 PMID:9536098 PMID:9557891 PMID:9594376 PMID:9923651 PMID:10027910 PMID:10408781 PMID:10627137 PMID:10694924 PMID:10807697 PMID:10976985 PMID:11288717 PMID:11317364 PMID:11836364 PMID:12362985 PMID:15077201 PMID:15172002 PMID:15241796 PMID:16199547 PMID:16705691 PMID:16786509 PMID:16816023 PMID:16879195 PMID:17078022 PMID:17576681 PMID:18028452 PMID:18272325 PMID:18311573 PMID:18798308 PMID:18996919 PMID:19208385 PMID:19317096 PMID:19344236 PMID:19594296 PMID:20301472 PMID:21239989 PMID:21344539 PMID:21488231 PMID:21488275 PMID:21488294 PMID:21520333 PMID:21530898 PMID:21667357 PMID:21801164 PMID:21884818 PMID:21912751 PMID:22206639 PMID:22589248 PMID:22753364 PMID:23158907 PMID:23227268 PMID:23443412 PMID:23548243 PMID:23692737 PMID:23869235 PMID:23934635 PMID:24033266 PMID:24140640 PMID:24296239 PMID:24342908 PMID:24501682 PMID:24668929 PMID:24863959 PMID:25086671 PMID:25146735 PMID:25289482 PMID:25326637 PMID:25436829 PMID:25441681 PMID:25450603 PMID:25633413 PMID:25741868 PMID:25742658 PMID:25835785 PMID:25858481 PMID:25944380 PMID:26138843 PMID:26177859 PMID:26264438 PMID:26307460 PMID:26371943 PMID:26402641 PMID:26432670 PMID:26467025 PMID:26471105 PMID:26551090 PMID:26604951 PMID:26627451 PMID:26788535 PMID:27011056 PMID:27056980 PMID:27090748 PMID:27264419 PMID:27509835 PMID:27510842 PMID:27519266 PMID:27748872 PMID:27761249 PMID:28017821 PMID:28346524 PMID:28378289 PMID:28492532 PMID:28498836 PMID:28518168 PMID:28528406 PMID:28625337 PMID:28725987 PMID:28810924 PMID:28916840 PMID:28981938 PMID:29150909 PMID:29225276 PMID:29499418 PMID:29595812 PMID:29620724 PMID:29656858 PMID:29669177 PMID:29807018 PMID:29947050 PMID:30152103 PMID:30283887 PMID:30311386 PMID:30715774 PMID:30821104 PMID:30886339 PMID:30984112 PMID:31039433 PMID:31061748 PMID:31141158 PMID:31193991 PMID:31218159 PMID:31363794 PMID:31414283 PMID:31428121 PMID:31429852 PMID:31447884 PMID:31566912 PMID:31680973 PMID:31737030 PMID:31794058 PMID:31829210 PMID:32123938 PMID:32154576 PMID:32166892 PMID:32461654 PMID:32659730 PMID:32667677 PMID:32770541 PMID:32920552 PMID:33070251 PMID:33110269 PMID:33939306 PMID:33942288 PMID:34098919 PMID:34306033 PMID:34317605 PMID:34422331 PMID:34902613 PMID:35052464 PMID:35154279 PMID:35723357 PMID:35830949 PMID:35855989 PMID:35909573 PMID:36140746 PMID:36709916 PMID:36896471 PMID:36900016 PMID:36951356 PMID:37079061 PMID:37270749 PMID:37810882 PMID:38346409 PMID:38843839 More...
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NCBI chr 9:74,174,484...74,210,407
Ensembl chr 9:74,173,931...74,210,397
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DLX3 |
distal-less homeobox 3 |
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ISO |
ClinVar Annotator: match by term: Osteogenesis imperfecta type I |
ClinVar |
PMID:7942841 PMID:9295084 PMID:9443882 PMID:23949819 PMID:26478226 PMID:28492532 More...
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NCBI chr12:26,177,896...26,183,172
Ensembl chr12:26,177,903...26,183,157
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EME1 |
essential meiotic structure-specific endonuclease 1 |
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ISO |
ClinVar Annotator: match by term: Osteogenesis imperfecta type I |
ClinVar |
PMID:25741868 |
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NCBI chr12:26,670,126...26,680,097
Ensembl chr12:26,670,176...26,680,601
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ITGA3 |
integrin subunit alpha 3 |
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ISO |
ClinVar Annotator: match by term: Osteogenesis imperfecta type I |
ClinVar |
PMID:7942841 PMID:9295084 PMID:9443882 PMID:23949819 PMID:25741868 PMID:25944380 PMID:26478226 PMID:28492532 More...
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NCBI chr12:26,234,769...26,269,327
Ensembl chr12:26,235,258...26,269,324
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G |
LRRC59 |
leucine rich repeat containing 59 |
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ISO |
ClinVar Annotator: match by term: Osteogenesis imperfecta type I |
ClinVar |
PMID:25741868 |
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NCBI chr12:26,678,207...26,694,277
Ensembl chr12:26,677,226...26,694,279
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MLH1 |
mutL homolog 1 |
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ISO |
ClinVar Annotator: match by term: Osteogenesis imperfecta type 1 with dentinogenesis imperfecta |
ClinVar |
PMID:9311737 PMID:11948175 PMID:15475387 PMID:16736289 PMID:17135187 PMID:17210669 PMID:17510385 PMID:21404117 PMID:22843852 PMID:23741719 PMID:25085752 PMID:25741868 PMID:25944380 PMID:26467025 PMID:26552419 PMID:28492532 PMID:28514183 PMID:28767289 PMID:28888541 PMID:30504929 PMID:31332305 PMID:32719484 PMID:33471991 PMID:36054288 More...
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NCBI chr13:21,791,276...21,877,789
Ensembl chr13:21,791,203...21,877,757
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MRPL27 |
mitochondrial ribosomal protein L27 |
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ISO |
ClinVar Annotator: match by term: Osteogenesis imperfecta type I |
ClinVar |
PMID:25741868 |
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NCBI chr12:26,663,884...26,670,167
Ensembl chr12:26,663,595...26,664,984
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PDK2 |
pyruvate dehydrogenase kinase 2 |
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ISO |
ClinVar Annotator: match by term: Osteogenesis imperfecta type I |
ClinVar |
PMID:7942841 PMID:9295084 PMID:9443882 PMID:23949819 PMID:25741868 PMID:25944380 PMID:26478226 PMID:28492532 More...
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NCBI chr12:26,274,562...26,295,787
Ensembl chr12:26,274,606...26,301,878
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PPP1R9B |
protein phosphatase 1 regulatory subunit 9B |
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ISO |
ClinVar Annotator: match by term: Osteogenesis imperfecta type I |
ClinVar |
PMID:7942841 PMID:9295084 PMID:9443882 PMID:23949819 PMID:25741868 PMID:25944380 PMID:26478226 PMID:28492532 More...
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NCBI chr12:26,319,123...26,337,089
Ensembl chr12:26,319,124...26,336,562
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G |
RYR1 |
ryanodine receptor 1 |
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ISO |
ClinVar Annotator: match by term: Osteogenesis imperfecta type 1 with dentinogenesis imperfecta |
ClinVar |
PMID:16199547 PMID:23919265 PMID:25741868 PMID:25944380 PMID:25960145 PMID:28492532 PMID:28818389 PMID:30611313 More...
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NCBI chr 6:47,339,759...47,458,457
Ensembl chr 6:47,343,768...47,458,458
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SAMD14 |
sterile alpha motif domain containing 14 |
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ISO |
ClinVar Annotator: match by term: Osteogenesis imperfecta type I |
ClinVar |
PMID:7942841 PMID:9295084 PMID:9443882 PMID:23949819 PMID:25741868 PMID:25944380 PMID:26478226 PMID:28492532 More...
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NCBI chr12:26,295,159...26,315,548
Ensembl chr12:26,296,016...26,315,422
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SGCA |
sarcoglycan alpha |
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ISO |
ClinVar Annotator: match by term: Osteogenesis imperfecta type I |
ClinVar |
PMID:7695699 PMID:7942841 PMID:8218237 PMID:9016532 PMID:9295084 PMID:9443882 PMID:17078022 PMID:19344236 PMID:23949819 PMID:25741868 PMID:25944380 PMID:26478226 PMID:28492532 More...
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NCBI chr12:26,356,691...26,368,561
Ensembl chr12:26,356,777...26,371,600
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SGCE |
sarcoglycan epsilon |
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ISO |
ClinVar Annotator: match by term: Osteogenesis imperfecta type I |
ClinVar |
PMID:11288717 PMID:15077201 PMID:28492532 |
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NCBI chr 9:74,402,714...74,473,904
Ensembl chr 9:74,402,717...74,473,910
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TMEM92 |
transmembrane protein 92 |
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ISO |
ClinVar Annotator: match by term: Osteogenesis imperfecta type I |
ClinVar |
PMID:25741868 |
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NCBI chr12:26,466,613...26,472,865
Ensembl chr12:26,452,882...26,472,864
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XYLT2 |
xylosyltransferase 2 |
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ISO |
ClinVar Annotator: match by term: Osteogenesis imperfecta type I |
ClinVar |
PMID:25741868 |
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NCBI chr12:26,640,802...26,656,809
Ensembl chr12:26,640,899...26,663,520
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WNT10A |
Wnt family member 10A |
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ISO |
ClinVar Annotator: match by term: KERATOSIS PALMOPLANTARIS WITH CYSTIC EYELIDS, HYPODONTIA, AND HYPOTRICHOSIS | ClinVar Annotator: match by term: Schopf-Schulz-Passarge syndrome |
OMIM ClinVar |
PMID:16199547 PMID:17847007 PMID:19471313 PMID:19559398 PMID:20163410 PMID:20979233 PMID:21143469 PMID:21279306 PMID:21484994 PMID:21834823 PMID:22581971 PMID:22670871 PMID:23167694 PMID:23401279 PMID:23991204 PMID:24043634 PMID:24311251 PMID:24312213 PMID:24398796 PMID:24449199 PMID:24458874 PMID:24700731 PMID:24702986 PMID:24902757 PMID:25356970 PMID:25545742 PMID:25629078 PMID:25713620 PMID:25741868 PMID:26087098 PMID:26964878 PMID:27881089 PMID:28105635 PMID:28492532 PMID:28813618 PMID:28976000 PMID:28981473 PMID:29178643 PMID:29271000 PMID:29364747 PMID:29431110 PMID:30046887 PMID:30426266 PMID:30526585 PMID:30569517 PMID:30974434 PMID:31103801 PMID:33034246 PMID:34228861 PMID:35537890 PMID:36071541 More...
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NCBI chr15:120,925,204...120,939,032
Ensembl chr15:120,925,499...120,938,430
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BMPR2 |
bone morphogenetic protein receptor type 2 |
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ISO |
ClinVar Annotator: match by term: Tooth agenesis, selective, 1 |
ClinVar |
PMID:19555857 PMID:20002458 PMID:21737554 PMID:25741868 PMID:26387786 PMID:28492532 PMID:36675162 More...
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NCBI chr15:105,971,577...106,132,496
Ensembl chr15:105,970,428...106,135,730
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MSX1 |
msh homeobox 1 |
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ISO |
ClinVar Annotator: match by term: Tooth agenesis, selective, 1 |
OMIM ClinVar |
PMID:8696335 PMID:9742121 PMID:10742093 PMID:12097313 PMID:12807959 PMID:15264286 PMID:16498076 PMID:21448236 PMID:24914010 PMID:25741868 PMID:28492532 More...
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NCBI chr 8:5,628,381...5,632,375
Ensembl chr 8:5,628,380...5,632,607
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TSPEAR |
thrombospondin type laminin G domain and EAR repeats |
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ISO |
ClinVar Annotator: match by term: Tooth agenesis, selective, 10 |
OMIM ClinVar |
PMID:22678063 PMID:24033266 PMID:25741868 PMID:25855803 PMID:26467025 PMID:27736875 PMID:28492532 PMID:29144512 PMID:30046887 PMID:30544257 PMID:32112661 PMID:34042254 PMID:37009414 More...
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NCBI chr13:207,285,878...207,412,523
Ensembl chr13:207,285,886...207,412,511
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G |
EDA |
ectodysplasin A |
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ISO |
ClinVar Annotator: match by term: Tooth agenesis, selective, 2 |
ClinVar |
PMID:25741868 PMID:30526585 |
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NCBI chr X:55,770,958...56,103,296
Ensembl chr X:55,771,041...56,103,265
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G |
EVC2 |
EvC ciliary complex subunit 2 |
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ISO |
ClinVar Annotator: match by term: Tooth agenesis, selective, 2 |
ClinVar |
PMID:25741868 |
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NCBI chr 8:4,893,480...5,023,655
Ensembl chr 8:4,893,217...5,023,644
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G |
WNT10A |
Wnt family member 10A |
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ISO |
ClinVar Annotator: match by term: STHAG2 |
ClinVar |
PMID:23401279 PMID:24043634 PMID:24311251 PMID:24312213 PMID:25629078 PMID:25741868 PMID:28492532 PMID:30526585 PMID:36071541 More...
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NCBI chr15:120,925,204...120,939,032
Ensembl chr15:120,925,499...120,938,430
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PAX9 |
paired box 9 |
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ISO |
ClinVar Annotator: match by term: Tooth agenesis, selective, 3 |
OMIM ClinVar |
PMID:10615120 PMID:11781684 PMID:11827258 PMID:11941488 PMID:12605438 PMID:12786960 PMID:14571272 PMID:14607846 PMID:14689302 PMID:15615874 PMID:16191360 PMID:16479262 PMID:17910065 PMID:18414213 PMID:19429910 PMID:25741868 PMID:28492532 PMID:28910570 PMID:29023497 PMID:30417976 PMID:36071541 More...
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NCBI chr 7:63,324,709...63,346,326
Ensembl chr 7:63,324,711...63,346,310
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SLC25A21 |
solute carrier family 25 member 21 |
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ISO |
ClinVar Annotator: match by term: Tooth agenesis, selective, 3 |
ClinVar |
PMID:11941488 |
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NCBI chr 7:62,808,126...63,326,634
Ensembl chr 7:62,810,937...63,325,625
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WNT10A |
Wnt family member 10A |
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ISO |
ClinVar Annotator: match by term: LATERAL INCISORS, ABSENCE OF | ClinVar Annotator: match by term: LATERAL INCISORS, PEGGED OR MISSING | ClinVar Annotator: match by term: TOOTH AGENESIS, SELECTIVE, 4, WITH OR WITHOUT ECTODERMAL DYSPLASIA | ClinVar Annotator: match by term: Tooth agenesis, selective, 4 |
OMIM ClinVar |
PMID:2897600 PMID:9536098 PMID:16199547 PMID:17576681 PMID:17847007 PMID:19471313 PMID:19559398 PMID:20163410 PMID:20979233 PMID:21143469 PMID:21279306 PMID:21484994 PMID:21834823 PMID:22581971 PMID:22670871 PMID:23167694 PMID:23401279 PMID:23991204 PMID:24043634 PMID:24311251 PMID:24312213 PMID:24398796 PMID:24449199 PMID:24458874 PMID:24700731 PMID:24702986 PMID:24902757 PMID:25356970 PMID:25545742 PMID:25629078 PMID:25713620 PMID:25741868 PMID:26087098 PMID:26964878 PMID:27657131 PMID:27881089 PMID:28105635 PMID:28492532 PMID:28813618 PMID:28976000 PMID:28981473 PMID:29178643 PMID:29271000 PMID:29314690 PMID:29364747 PMID:29431110 PMID:29758562 PMID:30046887 PMID:30426266 PMID:30526585 PMID:30569517 PMID:30974434 PMID:31103801 PMID:33034246 PMID:34228861 PMID:34593752 PMID:35537890 PMID:36071541 More...
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NCBI chr15:120,925,204...120,939,032
Ensembl chr15:120,925,499...120,938,430
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LRP6 |
LDL receptor related protein 6 |
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ISO |
ClinVar Annotator: match by term: LRP6-related condition | ClinVar Annotator: match by term: Tooth agenesis, selective, 7 |
OMIM ClinVar |
PMID:17332414 PMID:22813217 PMID:23033978 PMID:24427284 PMID:25741868 PMID:26387593 PMID:26963285 PMID:28492532 PMID:32147773 PMID:34306029 PMID:34593752 PMID:35928749 PMID:35961235 PMID:36143186 More...
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NCBI chr 5:60,149,041...60,318,719
Ensembl chr 5:60,149,028...60,314,662
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WNT10B |
Wnt family member 10B |
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ISO |
ClinVar Annotator: match by term: Tooth agenesis, selective, 8 |
OMIM ClinVar |
PMID:25741868 PMID:27321946 PMID:28492532 |
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NCBI chr 5:14,997,377...15,013,928
Ensembl chr 5:14,997,381...15,003,567
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GREM2 |
gremlin 2, DAN family BMP antagonist |
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ISO |
ClinVar Annotator: match by term: Tooth agenesis, selective, 9 |
OMIM ClinVar |
PMID:23401279 PMID:25741868 PMID:26416033 |
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NCBI chr10:11,884,198...11,904,249
Ensembl chr10:11,885,280...11,885,780
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EDA |
ectodysplasin A |
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ISO |
ClinVar Annotator: match by term: Tooth agenesis, selective, X-linked, 1 |
OMIM ClinVar |
PMID:9683615 PMID:16583127 PMID:17256800 PMID:18510547 PMID:18545687 PMID:18657636 PMID:19278982 PMID:19623212 PMID:23991204 PMID:24033266 PMID:24312213 PMID:25741868 PMID:26753551 PMID:27144394 PMID:27657131 PMID:28052341 PMID:28492532 PMID:30417976 PMID:31796081 PMID:33943035 PMID:34545288 PMID:36071541 More...
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NCBI chr X:55,770,958...56,103,296
Ensembl chr X:55,771,041...56,103,265
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SLC10A7 |
solute carrier family 10 member 7 |
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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 |
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NCBI chr 8:82,115,057...82,355,660
Ensembl chr 8:82,115,056...82,355,655
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POLR3GL |
RNA polymerase III subunit GL |
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ISO |
ClinVar Annotator: match by term: Short stature, oligodontia, dysmorphic facies, and motor delay |
OMIM ClinVar |
PMID:25741868 PMID:31089205 PMID:31695177 |
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NCBI chr 4:99,362,945...99,380,299
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IFIH1 |
interferon induced with helicase C domain 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr15:68,930,998...68,985,145
Ensembl chr15:68,928,254...68,985,083
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IFIH1 |
interferon induced with helicase C domain 1 |
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ISO |
ClinVar Annotator: match by term: Singleton-Merten syndrome 1 |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19264985 PMID:19324880 PMID:21070929 PMID:24686847 PMID:24995871 PMID:25620204 PMID:25741868 PMID:26284909 PMID:26833990 PMID:27477329 PMID:28008999 PMID:28319323 PMID:28475458 PMID:28492532 PMID:28605144 PMID:28606988 PMID:28716935 PMID:29018476 PMID:29270977 PMID:30219631 PMID:30564185 PMID:30707351 PMID:31069529 PMID:31178897 PMID:31898846 PMID:32853466 PMID:33440462 PMID:34185153 PMID:34539730 PMID:34975878 PMID:35086391 PMID:35211430 PMID:35754802 PMID:36703223 PMID:37342449 More...
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NCBI chr15:68,930,998...68,985,145
Ensembl chr15:68,928,254...68,985,083
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RIGI |
RNA sensor RIG-I |
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ISO |
ClinVar Annotator: match by term: RIGI-related condition | ClinVar Annotator: match by term: Singleton-Merten syndrome 2 |
OMIM ClinVar |
PMID:25620203 PMID:25741868 PMID:28180316 PMID:28492532 |
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NCBI chr10:33,891,720...33,976,151
Ensembl chr10:33,891,763...33,933,455
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SHH |
sonic hedgehog signaling molecule |
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ISO |
ClinVar Annotator: match by term: SINGLE CENTRAL MAXILLARY INCISOR | ClinVar Annotator: match by term: Solitary median maxillary central incisor syndrome |
OMIM ClinVar |
PMID:9302262 PMID:10556296 PMID:11471164 PMID:12567406 PMID:12709790 PMID:15103725 PMID:15292211 PMID:18655123 PMID:19533790 PMID:19603532 PMID:19920144 PMID:20157829 PMID:20425842 PMID:21416594 PMID:25741868 PMID:26467025 PMID:28127823 PMID:28492532 PMID:32939873 More...
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NCBI chr18:2,546,202...2,555,484
Ensembl chr18:2,545,994...2,555,484
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G |
SIX3 |
SIX homeobox 3 |
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ISO |
ClinVar Annotator: match by term: Solitary median maxillary central incisor syndrome |
ClinVar |
PMID:18791198 PMID:19346217 PMID:20157829 PMID:26080100 PMID:26467025 PMID:28492532 More...
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NCBI chr 3:95,521,330...95,527,004
Ensembl chr 3:95,521,334...95,525,436
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G |
LEMD2 |
LEM domain nuclear envelope protein 2 |
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ISO |
ClinVar Annotator: match by term: Teeth, supernumerary |
ClinVar |
PMID:25741868 PMID:30905398 |
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NCBI chr 7:29,980,394...29,997,077
Ensembl chr 7:29,980,401...29,997,115
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G |
KIF4A |
kinesin family member 4A |
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ISO |
ClinVar Annotator: match by term: KIF4A-related condition | ClinVar Annotator: match by term: Taurodontism, microdontia, and dens invaginatus |
OMIM ClinVar |
PMID:271276 PMID:25741868 PMID:28492532 PMID:31616463 |
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NCBI chr X:56,319,453...56,447,560
Ensembl chr X:56,319,529...56,447,553
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CHSY1 |
chondroitin sulfate synthase 1 |
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ISO |
ClinVar Annotator: match by term: CHSY1-related condition | ClinVar Annotator: match by term: Temtamy preaxial brachydactyly syndrome |
OMIM ClinVar |
PMID:9823490 PMID:19952732 PMID:21129727 PMID:21129728 PMID:25741868 PMID:26467025 PMID:28492532 More...
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NCBI chr 1:139,730,703...139,804,458
Ensembl chr 1:139,730,721...139,804,657
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AAK1 |
AP2 associated kinase 1 |
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ISO |
ClinVar Annotator: match by term: Tooth agenesis |
ClinVar |
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NCBI chr 3:72,793,977...72,960,315
Ensembl chr 3:72,794,158...72,968,194
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AXIN2 |
axin 2 |
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ISO |
ClinVar Annotator: match by term: Oligodontia |
ClinVar |
PMID:15042511 PMID:21416598 PMID:21626677 PMID:25637381 PMID:25741868 PMID:26467025 PMID:27300758 PMID:28492532 PMID:28944238 PMID:29371908 PMID:30374176 More...
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NCBI chr12:12,311,293...12,343,207
Ensembl chr12:12,311,298...12,343,200
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BMP2 |
bone morphogenetic protein 2 |
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ISO |
DNA:SNPs:cds:c.261A>G(p.S87S),c.570A>T (p.R190S)(human) |
RGD |
PMID:23079991 |
RGD:13446405 |
NCBI chr17:15,750,487...15,762,982
Ensembl chr17:15,749,835...15,761,195
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BMP4 |
bone morphogenetic protein 4 |
susceptibility |
ISO |
DNA:SNP: :rs17563(human) ClinVar Annotator: match by term: Tooth agenesis |
RGD ClinVar |
PMID:26166641 |
RGD:13442494 |
NCBI chr 1:183,415,989...183,422,888
Ensembl chr 1:183,416,146...183,422,637
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EDA |
ectodysplasin A |
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ISO |
ClinVar Annotator: match by term: Hypodontia | ClinVar Annotator: match by term: Oligodontia |
ClinVar |
PMID:19623212 PMID:24033266 PMID:25741868 PMID:28492532 |
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NCBI chr X:55,770,958...56,103,296
Ensembl chr X:55,771,041...56,103,265
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EDAR |
ectodysplasin A receptor |
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ISO |
ClinVar Annotator: match by term: Oligodontia |
ClinVar |
PMID:23210707 PMID:28265457 PMID:28492532 |
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NCBI chr 3:47,396,303...47,466,234
Ensembl chr 3:47,396,330...47,465,784
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EDARADD |
EDAR associated death domain |
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ISO |
ClinVar Annotator: match by term: Tooth agenesis |
ClinVar |
PMID:25741868 |
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NCBI chr14:54,924,156...54,992,206
Ensembl chr14:54,925,771...54,990,848
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LOC100511376 |
E3 SUMO-protein ligase RanBP2 |
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ISO |
ClinVar Annotator: match by term: Oligodontia |
ClinVar |
PMID:23210707 PMID:28265457 PMID:28492532 |
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NCBI chr 3:47,531,362...47,601,328
Ensembl chr 3:47,531,359...47,601,495
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LRP6 |
LDL receptor related protein 6 |
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ISO |
ClinVar Annotator: match by term: Oligodontia | ClinVar Annotator: match by term: Tooth agenesis |
ClinVar |
PMID:22813217 PMID:23033978 PMID:25741868 PMID:26963285 PMID:28492532 |
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NCBI chr 5:60,149,041...60,318,719
Ensembl chr 5:60,149,028...60,314,662
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MSX1 |
msh homeobox 1 |
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ISO |
ClinVar Annotator: match by term: Oligodontia |
ClinVar |
PMID:24914010 |
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NCBI chr 8:5,628,381...5,632,375
Ensembl chr 8:5,628,380...5,632,607
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PAX9 |
paired box 9 |
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ISO |
ClinVar Annotator: match by term: Hypodontia | ClinVar Annotator: match by term: Oligodontia | ClinVar Annotator: match by term: Selective tooth agenesis | ClinVar Annotator: match by term: Tooth agenesis |
ClinVar |
PMID:12605438 PMID:14607846 PMID:16236760 PMID:16479262 PMID:19429910 PMID:25741868 PMID:28492532 PMID:29969831 More...
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NCBI chr 7:63,324,709...63,346,326
Ensembl chr 7:63,324,711...63,346,310
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POLR3GL |
RNA polymerase III subunit GL |
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ISO |
ClinVar Annotator: match by term: Oligodontia |
ClinVar |
PMID:25741868 PMID:31089205 |
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NCBI chr 4:99,362,945...99,380,299
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RFX2 |
regulatory factor X2 |
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ISO |
ClinVar Annotator: match by term: Tooth agenesis |
ClinVar |
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NCBI chr 2:72,949,859...73,051,184
Ensembl chr 2:72,950,056...73,051,180
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SLC25A21 |
solute carrier family 25 member 21 |
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ISO |
ClinVar Annotator: match by term: Tooth agenesis |
ClinVar |
PMID:25741868 |
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NCBI chr 7:62,808,126...63,326,634
Ensembl chr 7:62,810,937...63,325,625
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VPS54 |
VPS54 subunit of GARP complex |
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ISO |
ClinVar Annotator: match by term: Tooth agenesis |
ClinVar |
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NCBI chr 3:77,856,093...77,978,194
Ensembl chr 3:77,856,138...77,975,429
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WNT10A |
Wnt family member 10A |
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ISO |
ClinVar Annotator: match by term: Reduced number of teeth | ClinVar Annotator: match by term: Selective tooth agenesis | ClinVar Annotator: match by term: Tooth agenesis |
ClinVar |
PMID:19559398 PMID:20979233 PMID:21279306 PMID:21484994 PMID:22581971 PMID:23167694 PMID:23401279 PMID:23991204 PMID:24043634 PMID:24311251 PMID:24312213 PMID:24449199 PMID:24700731 PMID:25629078 PMID:25713620 PMID:25741868 PMID:26964878 PMID:27881089 PMID:28105635 PMID:28492532 PMID:28813618 PMID:28976000 PMID:29364747 PMID:29431110 PMID:30046887 PMID:30426266 PMID:30526585 PMID:30974434 PMID:33034246 PMID:34228861 PMID:35537890 PMID:36071541 More...
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NCBI chr15:120,925,204...120,939,032
Ensembl chr15:120,925,499...120,938,430
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C8H4orf50 |
chromosome 8 C4orf50 homolog |
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ISO |
ClinVar Annotator: match by term: Hypoplastic enamel-onycholysis-hypohidrosis syndrome |
ClinVar |
PMID:9742121 PMID:10742093 PMID:14630905 PMID:28492532 |
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NCBI chr 8:4,613,979...4,680,300
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CRMP1 |
collapsin response mediator protein 1 |
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ISO |
ClinVar Annotator: match by term: Hypoplastic enamel-onycholysis-hypohidrosis syndrome |
ClinVar |
PMID:9742121 PMID:10742093 PMID:14630905 PMID:28492532 |
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NCBI chr 8:4,734,175...4,805,647
Ensembl chr 8:4,734,200...4,805,644
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CYTL1 |
cytokine like 1 |
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ISO |
ClinVar Annotator: match by term: Hypoplastic enamel-onycholysis-hypohidrosis syndrome |
ClinVar |
PMID:9742121 PMID:10742093 PMID:14630905 PMID:28492532 |
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NCBI chr 8:5,455,576...5,460,861
Ensembl chr 8:5,455,671...5,460,861
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EVC |
EvC ciliary complex subunit 1 |
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ISO |
ClinVar Annotator: match by term: Hypoplastic enamel-onycholysis-hypohidrosis syndrome |
ClinVar |
PMID:9742121 PMID:10742093 PMID:14630905 PMID:28492532 |
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NCBI chr 8:4,808,622...4,891,236
Ensembl chr 8:4,810,093...4,891,165
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EVC2 |
EvC ciliary complex subunit 2 |
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ISO |
ClinVar Annotator: match by term: Hypoplastic enamel-onycholysis-hypohidrosis syndrome |
ClinVar |
PMID:9742121 PMID:10742093 PMID:14630905 PMID:28492532 |
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NCBI chr 8:4,893,480...5,023,655
Ensembl chr 8:4,893,217...5,023,644
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JAKMIP1 |
janus kinase and microtubule interacting protein 1 |
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ISO |
ClinVar Annotator: match by term: Hypoplastic enamel-onycholysis-hypohidrosis syndrome |
ClinVar |
PMID:9742121 PMID:10742093 PMID:14630905 PMID:28492532 |
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NCBI chr 8:4,472,852...4,613,986
Ensembl chr 8:4,492,389...4,612,204
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MSX1 |
msh homeobox 1 |
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ISO |
ClinVar Annotator: match by term: Dysplasia of nails with hypodontia | ClinVar Annotator: match by term: Hypoplastic enamel-onycholysis-hypohidrosis syndrome | ClinVar Annotator: match by term: Tooth-and-Nail Syndrome |
OMIM ClinVar |
PMID:9484139 PMID:9742121 PMID:10742093 PMID:11369996 PMID:12807959 PMID:14630905 PMID:15354328 PMID:16327884 PMID:16868654 PMID:21448236 PMID:23991204 PMID:25741868 PMID:25874811 PMID:26030286 PMID:27917906 PMID:28166811 PMID:28492532 PMID:30192788 PMID:31837199 More...
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NCBI chr 8:5,628,381...5,632,375
Ensembl chr 8:5,628,380...5,632,607
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STK32B |
serine/threonine kinase 32B |
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ISO |
ClinVar Annotator: match by term: Hypoplastic enamel-onycholysis-hypohidrosis syndrome |
ClinVar |
PMID:9742121 PMID:10742093 PMID:14630905 PMID:28492532 |
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NCBI chr 8:5,056,816...5,418,326
Ensembl chr 8:5,056,817...5,418,329
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WFS1 |
wolframin ER transmembrane glycoprotein |
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ISO |
ClinVar Annotator: match by term: Hypoplastic enamel-onycholysis-hypohidrosis syndrome |
ClinVar |
PMID:9742121 PMID:10742093 PMID:14630905 PMID:28492532 |
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NCBI chr 8:4,362,678...4,405,185
Ensembl chr 8:4,362,680...4,385,273
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ABCC3 |
ATP binding cassette subfamily C member 3 |
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ISO |
ClinVar Annotator: match by term: Tricho-dento-osseous syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr12:26,920,764...26,978,389
Ensembl chr12:26,920,821...26,979,602
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ACSF2 |
acyl-CoA synthetase family member 2 |
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ISO |
ClinVar Annotator: match by term: Tricho-dento-osseous syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr12:26,713,790...26,752,352
Ensembl chr12:26,713,785...26,761,140
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ANKRD40 |
ankyrin repeat domain 40 |
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ISO |
ClinVar Annotator: match by term: Tricho-dento-osseous syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr12:26,978,213...26,995,760
Ensembl chr12:26,978,215...26,995,714
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ATP5MC1 |
ATP synthase membrane subunit c locus 1 |
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ISO |
ClinVar Annotator: match by term: Tricho-dento-osseous syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr12:25,110,540...25,113,481
Ensembl chr12:25,110,528...25,113,478
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B4GALNT2 |
beta-1,4-N-acetyl-galactosaminyltransferase 2 (SID blood group) |
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ISO |
ClinVar Annotator: match by term: Tricho-dento-osseous syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr12:25,368,234...25,410,021
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