Term: | Abnormality of the dentition |
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Accession: | HP:0000164
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browse the term
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Definition: | Any abnormality of the teeth. |
Comment: | Any abnormality of the primary (deciduous) or permanent teeth. |
Synonyms: | exact_synonym: | Abnormal dentition; Abnormal teeth; Dental abnormalities; Dental abnormality; Dental anomalies |
| related_synonym: | Abnormality of the teeth; Dental problem; Dental problems; Tooth abnormalities |
| alt_id: | HP:0001567; HP:0006296; HP:0006348 |
| xref: | SNOMEDCT_US:422775003; UMLS:C0040427; UMLS:C0262444 |
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ABCA12 |
ATP binding cassette subfamily A member 12 |
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IAGP |
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HPO |
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ORPHA:313 |
NCBI chr 2:214,931,542...215,138,626
Ensembl chr 2:214,931,542...215,138,626
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ABCA5 |
ATP binding cassette subfamily A member 5 |
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IAGP |
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HPO |
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ORPHA:2026 |
NCBI chr17:69,244,311...69,327,133
Ensembl chr17:69,244,311...69,327,244
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ACD |
ACD shelterin complex subunit and telomerase recruitment factor |
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IAGP |
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HPO |
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MIM:616553 |
NCBI chr16:67,657,512...67,660,260
Ensembl chr16:67,657,512...67,660,810
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ADAT3 |
adenosine deaminase tRNA specific 3 |
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IAGP |
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HPO |
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ORPHA:363528 |
NCBI chr19:1,905,399...1,913,447
Ensembl chr19:1,905,399...1,913,447
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ADNP |
activity dependent neuroprotector homeobox |
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IAGP |
ClinVar Annotator: match by term: Abnormality of the dentition |
ClinVar |
PMID:24531329 PMID:25741868 PMID:27031564 PMID:28135719 PMID:28221363 PMID:28407407 PMID:28492532 PMID:28675391 PMID:29475819 PMID:29724491 PMID:29911927 PMID:31029150 PMID:35322241 PMID:35813072 PMID:35920977 PMID:35982159 PMID:38204290 PMID:38254177 PMID:38282129 More...
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NCBI chr20:50,888,918...50,931,437
Ensembl chr20:50,888,916...50,931,437
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AGA |
aspartylglucosaminidase |
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IAGP |
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HPO |
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ORPHA:93 |
NCBI chr 4:177,430,774...177,442,437
Ensembl chr 4:177,430,774...177,442,437
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AGXT |
alanine--glyoxylate aminotransferase |
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IAGP |
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HPO |
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ORPHA:93598 |
NCBI chr 2:240,868,824...240,880,500
Ensembl chr 2:240,868,824...240,880,502
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AHCY |
adenosylhomocysteinase |
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IAGP |
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HPO |
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MIM:613752 ORPHA:88618 |
NCBI chr20:34,231,981...34,311,836
Ensembl chr20:34,280,268...34,311,802
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AIP |
aryl hydrocarbon receptor interacting protein |
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IAGP |
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HPO |
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ORPHA:963 |
NCBI chr11:67,483,026...67,491,103
Ensembl chr11:67,468,174...67,491,154
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ALMS1 |
ALMS1 centrosome and basal body associated protein |
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IAGP |
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HPO |
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MIM:203800 |
NCBI chr 2:73,385,758...73,609,919
Ensembl chr 2:73,385,758...73,625,166
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ALOX12B |
arachidonate 12-lipoxygenase, 12R type |
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IAGP |
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HPO |
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ORPHA:313 |
NCBI chr17:8,072,636...8,087,716
Ensembl chr17:8,072,636...8,087,716
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ALOXE3 |
arachidonate epidermal lipoxygenase 3 |
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IAGP |
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HPO |
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ORPHA:313 |
NCBI chr17:8,095,900...8,118,916
Ensembl chr17:8,095,900...8,119,047
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ALPL |
alkaline phosphatase, biomineralization associated |
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IAGP |
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HPO |
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MIM:241500 |
NCBI chr 1:21,508,984...21,578,410
Ensembl chr 1:21,509,397...21,578,410
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ALX4 |
ALX homeobox 4 |
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IAGP |
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HPO |
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ORPHA:228390 |
NCBI chr11:44,260,440...44,310,139
Ensembl chr11:44,260,440...44,310,139
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ANAPC1 |
anaphase promoting complex subunit 1 |
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IAGP |
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HPO |
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ORPHA:221008 |
NCBI chr 2:111,766,231...111,884,193
Ensembl chr 2:111,611,639...111,884,690
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APC |
APC regulator of WNT signaling pathway |
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IAGP |
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HPO |
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ORPHA:79665 |
NCBI chr 5:112,707,498...112,846,239
Ensembl chr 5:112,707,518...112,846,239
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APC2 |
APC regulator of WNT signaling pathway 2 |
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IAGP |
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HPO |
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ORPHA:821 |
NCBI chr19:1,446,230...1,473,244
Ensembl chr19:1,446,302...1,473,244
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APCDD1 |
APC down-regulated 1 |
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IAGP |
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HPO |
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MIM:605389 |
NCBI chr18:10,454,635...10,489,949
Ensembl chr18:10,454,635...10,489,949
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ARVCF |
ARVCF delta catenin family member |
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IAGP |
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HPO |
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ORPHA:567 |
NCBI chr22:19,965,134...20,016,823
Ensembl chr22:19,969,896...20,016,823
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ASPRV1 |
aspartic peptidase retroviral like 1 |
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IAGP |
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HPO |
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ORPHA:313 |
NCBI chr 2:69,932,717...70,087,375
Ensembl chr 2:69,960,089...69,961,631
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ATP6V1B2 |
ATPase H+ transporting V1 subunit B2 |
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IAGP |
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HPO |
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ORPHA:79499 ORPHA:79500 |
NCBI chr 8:20,197,381...20,221,696
Ensembl chr 8:20,197,381...20,230,399
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ATRX |
ATRX chromatin remodeler |
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IAGP |
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HPO |
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ORPHA:847 |
NCBI chr X:77,504,880...77,786,216
Ensembl chr X:77,504,880...77,786,233
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BBS4 |
Bardet-Biedl syndrome 4 |
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IAGP |
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HPO |
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MIM:615982 |
NCBI chr15:72,686,207...72,738,473
Ensembl chr15:72,686,186...72,742,006
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BCOR |
BCL6 corepressor |
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IAGP |
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HPO |
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ORPHA:2712 ORPHA:568 |
NCBI chr X:40,051,246...40,177,329
Ensembl chr X:40,049,815...40,177,329
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BRAF |
B-Raf proto-oncogene, serine/threonine kinase |
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IAGP |
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HPO |
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MIM:115150 |
NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929
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CA2 |
carbonic anhydrase 2 |
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IAGP |
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HPO |
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ORPHA:2785 |
NCBI chr 8:85,464,007...85,481,493
Ensembl chr 8:85,463,968...85,481,493
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CDH11 |
cadherin 11 |
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IAGP |
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HPO |
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ORPHA:1299 |
NCBI chr16:64,943,753...65,123,744
Ensembl chr16:64,943,753...65,126,112
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CDH3 |
cadherin 3 |
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IAGP |
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HPO |
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MIM:601553 |
NCBI chr16:68,645,310...68,733,771
Ensembl chr16:68,636,189...68,727,468
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CDSN |
corneodesmosin |
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IAGP |
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HPO |
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MIM:146520 ORPHA:90368 |
NCBI chr 6:31,115,087...31,120,446
Ensembl chr 6:31,115,087...31,120,446
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CFAP418 |
cilia and flagella associated protein 418 |
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IAGP |
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HPO |
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MIM:617406 |
NCBI chr 8:95,244,913...95,269,201
Ensembl chr 8:95,244,913...95,269,201
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CHD6 |
chromodomain helicase DNA binding protein 6 |
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IAGP |
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HPO |
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ORPHA:2108 |
NCBI chr20:41,402,083...41,618,377
Ensembl chr20:41,402,083...41,618,384
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CHD7 |
chromodomain helicase DNA binding protein 7 |
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IAGP |
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HPO |
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ORPHA:432 |
NCBI chr 8:60,678,740...60,868,028
Ensembl chr 8:60,678,740...60,868,028
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CHSY1 |
chondroitin sulfate synthase 1 |
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IAGP |
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HPO |
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ORPHA:363417 |
NCBI chr15:101,175,727...101,252,048
Ensembl chr15:101,175,727...101,252,048
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CLCN7 |
chloride voltage-gated channel 7 |
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IAGP |
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HPO |
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ORPHA:210110 ORPHA:53 |
NCBI chr16:1,444,935...1,475,028
Ensembl chr16:1,444,934...1,475,077
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COL11A1 |
collagen type XI alpha 1 chain |
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IAGP |
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HPO |
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ORPHA:560 |
NCBI chr 1:102,876,473...103,108,522
Ensembl chr 1:102,876,467...103,108,872
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COL2A1 |
collagen type II alpha 1 chain |
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IAGP |
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HPO |
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ORPHA:2380 ORPHA:93315 |
NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554
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COL3A1 |
collagen type III alpha 1 chain |
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IAGP |
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HPO |
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ORPHA:286 |
NCBI chr 2:188,974,373...189,012,746
Ensembl chr 2:188,974,373...189,012,746
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COL7A1 |
collagen type VII alpha 1 chain |
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IAGP |
ClinVar Annotator: match by term: Abnormality of the dentition |
ClinVar |
PMID:8037207 PMID:12787275 PMID:16971478 PMID:22266148 PMID:25741868 PMID:28492532 PMID:28830826 PMID:32860008 PMID:35979658 PMID:36287101 More...
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NCBI chr 3:48,564,073...48,595,329
Ensembl chr 3:48,564,073...48,595,329
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COMT |
catechol-O-methyltransferase |
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IAGP |
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HPO |
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ORPHA:567 |
NCBI chr22:19,941,772...19,969,975
Ensembl chr22:19,941,371...19,969,975
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CREBBP |
CREB binding protein |
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IAGP |
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HPO |
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ORPHA:592574 |
NCBI chr16:3,725,054...3,880,713
Ensembl chr16:3,725,054...3,880,713
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CTC1 |
CST telomere replication complex component 1 |
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IAGP |
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HPO |
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ORPHA:1775 |
NCBI chr17:8,224,815...8,248,056
Ensembl chr17:8,224,815...8,248,058
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CTCF |
CCCTC-binding factor |
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IAGP |
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HPO |
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ORPHA:363611 |
NCBI chr16:67,562,526...67,639,185
Ensembl chr16:67,562,467...67,639,177
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CTDP1 |
CTD phosphatase subunit 1 |
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IAGP |
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HPO |
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MIM:604168 |
NCBI chr18:79,676,768...79,756,625
Ensembl chr18:79,679,803...79,754,503
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CTSC |
cathepsin C |
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IAGP |
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HPO |
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ORPHA:678 |
NCBI chr11:88,293,592...88,337,736
Ensembl chr11:88,265,069...88,359,684
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CTSK |
cathepsin K |
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IAGP |
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HPO |
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ORPHA:763 |
NCBI chr 1:150,796,208...150,808,260
Ensembl chr 1:150,794,880...150,809,577
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CYP4F22 |
cytochrome P450 family 4 subfamily F member 22 |
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IAGP |
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HPO |
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ORPHA:313 |
NCBI chr19:15,508,525...15,552,317
Ensembl chr19:15,508,525...15,552,317
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DDB2 |
damage specific DNA binding protein 2 |
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IAGP |
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HPO |
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ORPHA:910 |
NCBI chr11:47,214,454...47,239,217
Ensembl chr11:47,214,465...47,239,217
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DEAF1 |
DEAF1 transcription factor |
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IAGP |
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HPO |
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ORPHA:819 |
NCBI chr11:644,220...707,083
Ensembl chr11:644,233...707,118
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DKC1 |
dyskerin pseudouridine synthase 1 |
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IAGP |
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HPO |
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ORPHA:1775 |
NCBI chr X:154,762,864...154,777,689
Ensembl chr X:154,762,742...154,777,689
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DSC3 |
desmocollin 3 |
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IAGP |
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HPO |
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MIM:613102 |
NCBI chr18:30,989,365...31,042,742
Ensembl chr18:30,989,365...31,042,815
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DSG4 |
desmoglein 4 |
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IAGP |
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HPO |
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ORPHA:573 |
NCBI chr18:31,376,777...31,414,909
Ensembl chr18:31,376,777...31,414,912
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DSP |
desmoplakin |
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IAGP |
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HPO |
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MIM:612908 |
NCBI chr 6:7,541,671...7,586,714
Ensembl chr 6:7,541,326...7,586,717
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DUSP6 |
dual specificity phosphatase 6 |
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IAGP |
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HPO |
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MIM:615269 ORPHA:432 |
NCBI chr12:89,347,235...89,352,501
Ensembl chr12:89,347,235...89,352,501
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DVL1 |
dishevelled segment polarity protein 1 |
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IAGP |
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HPO |
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MIM:616331 |
NCBI chr 1:1,335,278...1,349,418
Ensembl chr 1:1,335,276...1,349,418
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DYNC2LI1 |
dynein cytoplasmic 2 light intermediate chain 1 |
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IAGP |
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HPO |
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ORPHA:289 |
NCBI chr 2:43,774,039...43,828,347
Ensembl chr 2:43,774,039...43,810,010
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EDAR |
ectodysplasin A receptor |
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IAGP |
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HPO |
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ORPHA:1810 |
NCBI chr 2:108,894,471...108,989,220
Ensembl chr 2:108,894,471...108,989,372
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EDARADD |
EDAR associated via death domain |
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IAGP |
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HPO |
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ORPHA:1810 |
NCBI chr 1:236,348,259...236,484,930
Ensembl chr 1:236,348,257...236,502,915
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EFNB1 |
ephrin B1 |
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IAGP |
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HPO |
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MIM:304110 ORPHA:1520 |
NCBI chr X:68,829,021...68,842,160
Ensembl chr X:68,829,021...68,842,160
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EHMT1 |
euchromatic histone lysine methyltransferase 1 |
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IAGP |
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HPO |
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ORPHA:261652 |
NCBI chr 9:137,619,005...137,836,127
Ensembl chr 9:137,618,992...137,870,016
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ENPP1 |
ectonucleotide pyrophosphatase/phosphodiesterase 1 |
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IAGP |
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HPO |
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MIM:615522 |
NCBI chr 6:131,808,020...131,895,155
Ensembl chr 6:131,808,016...131,895,155
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EPS8L3 |
EPS8 signaling adaptor L3 |
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IAGP |
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HPO |
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MIM:612841 |
NCBI chr 1:109,750,080...109,763,923
Ensembl chr 1:109,750,080...109,764,027
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ERCC2 |
ERCC excision repair 2, TFIIH core complex helicase subunit |
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IAGP |
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HPO |
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ORPHA:910 |
NCBI chr19:45,349,837...45,370,573
Ensembl chr19:45,349,837...45,370,918
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ERCC3 |
ERCC excision repair 3, TFIIH core complex helicase subunit |
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IAGP |
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HPO |
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ORPHA:910 |
NCBI chr 2:127,257,290...127,294,144
Ensembl chr 2:127,257,290...127,294,166
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ERCC4 |
ERCC excision repair 4, endonuclease catalytic subunit |
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IAGP |
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HPO |
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ORPHA:90321 ORPHA:910 |
NCBI chr16:13,920,154...13,952,348
Ensembl chr16:13,920,138...13,952,348
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ERCC5 |
ERCC excision repair 5, endonuclease |
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IAGP |
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HPO |
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ORPHA:910 |
NCBI chr13:102,846,032...102,875,995
Ensembl chr13:102,845,831...102,875,995
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ERCC6 |
ERCC excision repair 6, chromatin remodeling factor |
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IAGP |
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HPO |
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ORPHA:90321 |
NCBI chr10:49,434,881...49,539,538
Ensembl chr10:49,454,168...49,539,538
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ERCC8 |
ERCC excision repair 8, CSA ubiquitin ligase complex subunit |
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IAGP |
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HPO |
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ORPHA:90321 |
NCBI chr 5:60,866,454...60,945,070
Ensembl chr 5:60,866,454...60,945,073
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EVC |
EvC ciliary complex subunit 1 |
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IAGP |
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HPO |
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ORPHA:289 ORPHA:952 |
NCBI chr 4:5,711,201...5,829,057
Ensembl chr 4:5,711,201...5,814,305
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EVC2 |
EvC ciliary complex subunit 2 |
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IAGP |
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HPO |
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ORPHA:289 ORPHA:952 |
NCBI chr 4:5,529,011...5,709,548
Ensembl chr 4:5,542,772...5,709,548
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EXT1 |
exostosin glycosyltransferase 1 |
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IAGP |
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HPO |
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ORPHA:502 |
NCBI chr 8:117,794,490...118,111,826
Ensembl chr 8:117,794,490...118,111,826
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FGD1 |
FYVE, RhoGEF and PH domain containing 1 |
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IAGP |
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HPO |
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ORPHA:915 |
NCBI chr X:54,445,454...54,496,234
Ensembl chr X:54,445,454...54,496,234
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FGF10 |
fibroblast growth factor 10 |
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IAGP |
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HPO |
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ORPHA:2363 |
NCBI chr 5:44,300,247...44,389,420
Ensembl chr 5:44,300,247...44,389,706
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FGF17 |
fibroblast growth factor 17 |
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IAGP |
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HPO |
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ORPHA:432 |
NCBI chr 8:22,039,672...22,048,809
Ensembl chr 8:22,042,398...22,048,809
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FGF23 |
fibroblast growth factor 23 |
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IAGP |
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HPO |
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MIM:193100 |
NCBI chr12:4,368,227...4,379,712
Ensembl chr12:4,368,227...4,379,712
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FGF8 |
fibroblast growth factor 8 |
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IAGP |
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HPO |
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ORPHA:432 |
NCBI chr10:101,770,109...101,780,369
Ensembl chr10:101,770,109...101,780,371
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FGFR1 |
fibroblast growth factor receptor 1 |
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IAGP |
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HPO |
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ORPHA:432 |
NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834
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FGFR2 |
fibroblast growth factor receptor 2 |
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IAGP |
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HPO |
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ORPHA:2363 |
NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458
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FGFR3 |
fibroblast growth factor receptor 3 |
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IAGP |
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HPO |
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ORPHA:2363 |
NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872
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FKBP10 |
FKBP prolyl isomerase 10 |
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IAGP |
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HPO |
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MIM:259450 |
NCBI chr17:41,813,004...41,823,213
Ensembl chr17:41,812,680...41,823,213
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FLII |
FLII actin remodeling protein |
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IAGP |
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HPO |
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ORPHA:819 |
NCBI chr17:18,244,815...18,259,022
Ensembl chr17:18,244,815...18,258,738
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FLNA |
filamin A |
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IAGP |
ClinVar Annotator: match by term: Dental problems |
ClinVar |
PMID:28492532 |
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NCBI chr X:154,348,531...154,374,634
Ensembl chr X:154,348,524...154,374,634
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FN1 |
fibronectin 1 |
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IAGP |
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HPO |
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ORPHA:93315 |
NCBI chr 2:215,360,865...215,436,068
Ensembl chr 2:215,360,440...215,436,073
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FUCA1 |
alpha-L-fucosidase 1 |
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IAGP |
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HPO |
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ORPHA:349 |
NCBI chr 1:23,845,077...23,868,290
Ensembl chr 1:23,845,077...23,868,290
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GBA1 |
glucosylceramidase beta 1 |
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IAGP |
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HPO |
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ORPHA:77261 |
NCBI chr 1:155,234,452...155,244,627
Ensembl chr 1:155,234,452...155,244,699
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GJB2 |
gap junction protein beta 2 |
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IAGP |
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HPO |
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ORPHA:477 |
NCBI chr13:20,187,470...20,192,938
Ensembl chr13:20,187,463...20,192,938
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GJB6 |
gap junction protein beta 6 |
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IAGP |
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HPO |
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MIM:129500 ORPHA:477 |
NCBI chr13:20,221,962...20,232,319
Ensembl chr13:20,221,962...20,232,365
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G |
GLI1 |
GLI family zinc finger 1 |
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IAGP |
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HPO |
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ORPHA:289 |
NCBI chr12:57,459,785...57,472,268
Ensembl chr12:57,459,785...57,472,268
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G |
GNRH1 |
gonadotropin releasing hormone 1 |
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IAGP |
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HPO |
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ORPHA:432 |
NCBI chr 8:25,419,258...25,425,040
Ensembl chr 8:25,419,258...25,424,654
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G |
GNRHR |
gonadotropin releasing hormone receptor |
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IAGP |
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HPO |
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ORPHA:432 |
NCBI chr 4:67,737,118...67,754,388
Ensembl chr 4:67,737,118...67,754,388
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G |
GON7 |
GON7 subunit of KEOPS complex |
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IAGP |
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HPO |
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ORPHA:2065 |
NCBI chr14:93,202,894...93,207,065
Ensembl chr14:93,202,894...93,207,065
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G |
GORAB |
golgin, RAB6 interacting |
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IAGP |
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HPO |
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MIM:231070 |
NCBI chr 1:170,532,166...170,553,834
Ensembl chr 1:170,531,819...170,553,834
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G |
GP1BB |
glycoprotein Ib platelet subunit beta |
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IAGP |
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HPO |
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ORPHA:567 |
NCBI chr22:19,723,539...19,724,771
Ensembl chr22:19,723,539...19,724,771
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G |
GPR101 |
G protein-coupled receptor 101 |
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IAGP |
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HPO |
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ORPHA:963 |
NCBI chr X:137,023,929...137,033,995
Ensembl chr X:137,023,929...137,033,995
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G |
H19 |
H19 imprinted maternally expressed transcript |
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IAGP |
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HPO |
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ORPHA:2128 |
NCBI chr11:1,995,176...2,001,266
Ensembl chr11:1,995,165...2,004,552
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G |
HBB |
hemoglobin subunit beta |
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IAGP |
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HPO |
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ORPHA:231214 ORPHA:231226 |
NCBI chr11:5,225,464...5,227,071
Ensembl chr11:5,225,464...5,229,395
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G |
HIRA |
histone cell cycle regulator |
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IAGP |
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HPO |
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ORPHA:567 |
NCBI chr22:19,330,698...19,431,733
Ensembl chr22:19,330,698...19,447,450
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G |
HOXC13 |
homeobox C13 |
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IAGP |
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HPO |
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MIM:614931 |
NCBI chr12:53,938,831...53,946,544
Ensembl chr12:53,938,831...53,946,544
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G |
HRAS |
HRas proto-oncogene, GTPase |
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IAGP |
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HPO |
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ORPHA:3071 |
NCBI chr11:532,242...535,576
Ensembl chr11:532,242...537,321
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G |
HS6ST1 |
heparan sulfate 6-O-sulfotransferase 1 |
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IAGP |
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HPO |
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ORPHA:432 |
NCBI chr 2:128,265,480...128,318,868
Ensembl chr 2:128,236,716...128,318,868
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G |
IFT122 |
intraflagellar transport 122 |
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IAGP |
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HPO |
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ORPHA:1515 |
NCBI chr 3:129,440,224...129,520,507
Ensembl chr 3:129,429,607...129,520,510
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G |
IFT43 |
intraflagellar transport 43 |
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IAGP |
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HPO |
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ORPHA:1515 |
NCBI chr14:75,985,763...76,084,073
Ensembl chr14:75,902,136...76,084,585
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G |
IFT52 |
intraflagellar transport 52 |
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IAGP |
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HPO |
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ORPHA:1515 |
NCBI chr20:43,590,937...43,647,299
Ensembl chr20:43,590,937...43,647,299
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G |
IGF2 |
insulin like growth factor 2 |
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IAGP |
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HPO |
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ORPHA:2128 |
NCBI chr11:2,129,117...2,149,566
Ensembl chr11:2,129,112...2,158,391
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G |
IL17RD |
interleukin 17 receptor D |
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IAGP |
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HPO |
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MIM:615267 |
NCBI chr 3:57,089,982...57,170,317
Ensembl chr 3:57,089,982...57,170,306
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G |
INSR |
insulin receptor |
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IAGP |
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HPO |
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ORPHA:769 |
NCBI chr19:7,112,265...7,294,414
Ensembl chr19:7,112,255...7,294,414
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G |
IQSEC2 |
IQ motif and Sec7 domain ArfGEF 2 |
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IAGP |
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HPO |
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ORPHA:819 |
NCBI chr X:53,225,813...53,321,350
Ensembl chr X:53,225,828...53,321,350
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G |
JMJD1C |
jumonji domain containing 1C |
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IAGP |
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HPO |
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ORPHA:567 |
NCBI chr10:63,167,225...63,521,890
Ensembl chr10:63,167,221...63,521,850
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G |
KAT6B |
lysine acetyltransferase 6B |
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IAGP |
DNA:mutations:cds:multiple |
RGD |
PMID:22077973 |
RGD:9588484 |
NCBI chr10:74,824,936...75,032,624
Ensembl chr10:74,824,927...75,032,624
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G |
KCNJ2 |
potassium inwardly rectifying channel subfamily J member 2 |
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IAGP |
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HPO |
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ORPHA:37553 |
NCBI chr17:70,169,532...70,180,044
Ensembl chr17:70,168,673...70,180,044
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G |
KCNJ5 |
potassium inwardly rectifying channel subfamily J member 5 |
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IAGP |
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HPO |
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ORPHA:37553 |
NCBI chr11:128,891,356...128,921,163
Ensembl chr11:128,891,356...128,921,163
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G |
KCNQ1OT1 |
KCNQ1 opposite strand/antisense transcript 1 |
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IAGP |
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HPO |
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ORPHA:2128 |
NCBI chr11:2,608,328...2,699,994
Ensembl chr11:2,597,308...2,700,003
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G |
KCTD1 |
potassium channel tetramerization domain containing 1 |
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IAGP |
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HPO |
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ORPHA:2036 |
NCBI chr18:26,454,910...26,657,473
Ensembl chr18:26,454,910...26,657,401
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G |
KDF1 |
keratinocyte differentiation factor 1 |
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IAGP |
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HPO |
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ORPHA:1810 |
NCBI chr 1:26,949,562...26,960,468
Ensembl chr 1:26,949,562...26,960,468
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G |
KDM6A |
lysine demethylase 6A |
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IAGP |
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HPO |
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MIM:147920 ORPHA:2322 |
NCBI chr X:44,873,188...45,112,779
Ensembl chr X:44,873,188...45,112,779
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G |
KDM6B |
lysine demethylase 6B |
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IAGP |
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HPO |
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MIM:618505 |
NCBI chr17:7,834,217...7,854,796
Ensembl chr17:7,834,217...7,854,796
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G |
KISS1 |
KiSS-1 metastasis suppressor |
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IAGP |
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HPO |
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ORPHA:432 |
NCBI chr 1:204,190,341...204,196,491
Ensembl chr 1:204,190,341...204,196,491
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G |
KISS1R |
KISS1 receptor |
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IAGP |
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HPO |
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ORPHA:432 |
NCBI chr19:917,333...921,005
Ensembl chr19:917,287...921,005
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G |
KMT2C |
lysine methyltransferase 2C |
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IAGP |
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HPO |
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ORPHA:261652 |
NCBI chr 7:152,134,925...152,436,003
Ensembl chr 7:152,134,922...152,436,644
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G |
KMT2D |
lysine methyltransferase 2D |
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IAGP |
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HPO |
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MIM:147920 ORPHA:2322 |
NCBI chr12:49,018,978...49,060,794
Ensembl chr12:49,018,975...49,060,794
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G |
KRT14 |
keratin 14 |
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IAGP |
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HPO |
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ORPHA:69087 ORPHA:79397 ORPHA:79399 |
NCBI chr17:41,582,279...41,586,895
Ensembl chr17:41,582,279...41,586,895
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G |
KRT5 |
keratin 5 |
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IAGP |
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HPO |
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ORPHA:79397 ORPHA:79399 |
NCBI chr12:52,514,575...52,520,394
Ensembl chr12:52,514,575...52,520,530
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G |
KRT74 |
keratin 74 |
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IAGP |
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HPO |
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MIM:613981 MIM:614929 ORPHA:90368 |
NCBI chr12:52,565,782...52,573,843
Ensembl chr12:52,565,782...52,573,843
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G |
KRT81 |
keratin 81 |
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IAGP |
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HPO |
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ORPHA:573 |
NCBI chr12:52,285,913...52,291,534
Ensembl chr12:52,285,913...52,291,534
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G |
KRT83 |
keratin 83 |
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IAGP |
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HPO |
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MIM:617756 ORPHA:573 |
NCBI chr12:52,314,301...52,321,398
Ensembl chr12:52,314,301...52,321,398
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G |
KRT85 |
keratin 85 |
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IAGP |
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HPO |
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MIM:602032 |
NCBI chr12:52,360,006...52,367,481
Ensembl chr12:52,360,006...52,367,481
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G |
KRT86 |
keratin 86 |
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IAGP |
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HPO |
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ORPHA:573 |
NCBI chr12:52,274,645...52,309,163
Ensembl chr12:52,249,300...52,309,163
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G |
LAGE3 |
L antigen family member 3 |
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IAGP |
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HPO |
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ORPHA:2065 |
NCBI chr X:154,477,775...154,479,281
Ensembl chr X:154,477,775...154,479,281
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G |
LBR |
lamin B receptor |
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IAGP |
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HPO |
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MIM:169400 |
NCBI chr 1:225,401,502...225,428,821
Ensembl chr 1:225,401,502...225,428,925
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G |
LIFR |
LIF receptor subunit alpha |
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IAGP |
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HPO |
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ORPHA:3206 |
NCBI chr 5:38,474,668...38,608,403
Ensembl chr 5:38,474,668...38,608,354
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G |
LIG4 |
DNA ligase 4 |
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IAGP |
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HPO |
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ORPHA:235 |
NCBI chr13:108,207,442...108,218,349
Ensembl chr13:108,207,439...108,218,368
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G |
LIPH |
lipase H |
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IAGP |
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HPO |
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MIM:604379 |
NCBI chr 3:185,506,262...185,552,588
Ensembl chr 3:185,506,262...185,552,588
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G |
LIPN |
lipase family member N |
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IAGP |
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HPO |
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ORPHA:313 |
NCBI chr10:88,757,226...88,779,626
Ensembl chr10:88,759,982...88,779,626
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G |
LMNA |
lamin A/C |
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IAGP |
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HPO |
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ORPHA:90153 |
NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,572...156,140,081
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G |
LOC126859661 |
CDK7 strongly-dependent group 2 enhancer GRCh37_chr6:35211069-35212268 |
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IAGP |
ClinVar Annotator: match by term: Abnormality of the dentition |
ClinVar |
PMID:25741868 PMID:33308444 |
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NCBI chr 6:35,243,292...35,244,491
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G |
LOC126862264 |
CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:3293322-3294521 |
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IAGP |
ClinVar Annotator: match by term: Abnormality of the dentition |
ClinVar |
PMID:9668175 PMID:10090880 PMID:10612841 PMID:10787450 PMID:10842288 PMID:11464238 PMID:11977178 PMID:15018633 PMID:15024744 PMID:16730661 PMID:17489852 PMID:19253030 PMID:19934083 PMID:20041150 PMID:20534143 PMID:21246368 PMID:21413889 PMID:21978701 PMID:22614345 PMID:22903357 PMID:23505242 PMID:23588594 PMID:23907647 PMID:23981758 PMID:24251727 PMID:24469716 PMID:24929125 PMID:25615955 PMID:25741868 PMID:26078663 PMID:28492532 PMID:29047407 PMID:29543225 PMID:29599418 PMID:31989427 PMID:32312770 PMID:33733382 PMID:34426522 PMID:35098403 More...
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NCBI chr16:3,243,322...3,244,521
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G |
LPAR6 |
lysophosphatidic acid receptor 6 |
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IAGP |
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HPO |
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MIM:278150 |
NCBI chr13:48,389,571...48,444,669
Ensembl chr13:48,389,567...48,444,704
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G |
LTBP2 |
latent transforming growth factor beta binding protein 2 |
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IAGP |
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HPO |
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MIM:251750 |
NCBI chr14:74,498,183...74,612,237
Ensembl chr14:74,498,183...74,612,378
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G |
MAF |
MAF bZIP transcription factor |
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IAGP |
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HPO |
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MIM:601088 |
NCBI chr16:79,202,622...79,600,737
Ensembl chr16:79,585,843...79,600,737
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G |
MBTPS2 |
membrane bound transcription factor peptidase, site 2 |
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IAGP |
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HPO |
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ORPHA:659 |
NCBI chr X:21,839,617...21,885,423
Ensembl chr X:21,839,617...21,885,423
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G |
MCTP2 |
multiple C2 and transmembrane domain containing 2 |
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IAGP |
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HPO |
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ORPHA:1596 |
NCBI chr15:94,231,366...94,483,952
Ensembl chr15:94,231,538...94,483,952
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G |
MECP2 |
methyl-CpG binding protein 2 |
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IAGP |
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HPO |
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MIM:312750 |
NCBI chr X:154,021,573...154,097,717
Ensembl chr X:154,021,573...154,137,103
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G |
MED12 |
mediator complex subunit 12 |
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IAGP |
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HPO |
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ORPHA:776 |
NCBI chr X:71,118,596...71,142,450
Ensembl chr X:71,118,543...71,144,103
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G |
MEFV |
MEFV innate immunity regulator, pyrin |
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IAGP |
ClinVar Annotator: match by term: Abnormality of the dentition |
ClinVar |
PMID:9668175 PMID:10090880 PMID:10612841 PMID:10787450 PMID:10842288 PMID:11464238 PMID:11977178 PMID:15018633 PMID:15024744 PMID:16730661 PMID:17489852 PMID:19253030 PMID:19934083 PMID:20041150 PMID:20534143 PMID:21246368 PMID:21413889 PMID:21978701 PMID:22614345 PMID:22903357 PMID:23505242 PMID:23588594 PMID:23907647 PMID:23981758 PMID:24251727 PMID:24469716 PMID:24929125 PMID:25615955 PMID:25741868 PMID:26078663 PMID:28492532 PMID:29047407 PMID:29543225 PMID:29599418 PMID:31989427 PMID:32312770 PMID:33733382 PMID:34426522 PMID:35098403 More...
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NCBI chr16:3,242,027...3,256,633
Ensembl chr16:3,242,027...3,256,633
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G |
MEIS2 |
Meis homeobox 2 |
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IAGP |
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HPO |
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ORPHA:261190 |
NCBI chr15:36,889,204...37,101,311
Ensembl chr15:36,889,204...37,101,299
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G |
MFN2 |
mitofusin 2 |
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IAGP |
ClinVar Annotator: match by term: Abnormality of the dentition |
ClinVar |
PMID:15064763 PMID:16437557 PMID:16714318 PMID:16835246 PMID:17215403 PMID:17296794 PMID:19889647 PMID:20418531 PMID:21285398 PMID:21508331 PMID:22442078 PMID:24126688 PMID:24604904 PMID:24862862 PMID:24863639 PMID:25025039 PMID:25741868 PMID:26085578 PMID:26382835 PMID:26467025 PMID:26686600 PMID:26801520 PMID:27549087 PMID:27863451 PMID:28492532 PMID:31130284 PMID:31188717 PMID:31832804 PMID:32376792 PMID:33475540 PMID:33841295 PMID:34366782 PMID:35938991 More...
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NCBI chr 1:11,980,444...12,013,508
Ensembl chr 1:11,980,181...12,015,211
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G |
MMP13 |
matrix metallopeptidase 13 |
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IAGP |
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HPO |
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ORPHA:2501 |
NCBI chr11:102,942,995...102,955,732
Ensembl chr11:102,942,995...102,955,732
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G |
MSX1 |
msh homeobox 1 |
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IAGP |
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HPO |
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ORPHA:2228 |
NCBI chr 4:4,859,665...4,863,936
Ensembl chr 4:4,859,665...4,863,936
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G |
MYH3 |
myosin heavy chain 3 |
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IAGP |
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HPO |
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ORPHA:2053 |
NCBI chr17:10,628,532...10,678,417
Ensembl chr17:10,628,526...10,657,309
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G |
NAA10 |
N-alpha-acetyltransferase 10, NatA catalytic subunit |
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IAGP |
|
HPO |
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MIM:300855 ORPHA:568 |
NCBI chr X:153,929,225...153,935,037
Ensembl chr X:153,929,225...153,935,080
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G |
NALCN |
sodium leak channel, non-selective |
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IAGP |
|
HPO |
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ORPHA:2053 |
NCBI chr13:101,053,776...101,417,179
Ensembl chr13:101,053,776...101,416,508
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G |
NECTIN1 |
nectin cell adhesion molecule 1 |
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IAGP |
|
HPO |
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ORPHA:3253 |
NCBI chr11:119,638,098...119,729,200
Ensembl chr11:119,623,408...119,729,200
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G |
NGF |
nerve growth factor |
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IAGP |
|
HPO |
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ORPHA:64752 |
NCBI chr 1:115,285,917...115,338,249
Ensembl chr 1:115,285,904...115,338,770
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G |
NHLH2 |
nescient helix-loop-helix 2 |
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IAGP |
|
HPO |
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ORPHA:432 |
NCBI chr 1:115,831,344...115,841,126
Ensembl chr 1:115,836,377...115,843,917
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G |
NHP2 |
NHP2 ribonucleoprotein |
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IAGP |
|
HPO |
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ORPHA:1775 |
NCBI chr 5:178,149,463...178,153,885
Ensembl chr 5:178,149,463...178,153,894
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G |
NHS |
NHS actin remodeling regulator |
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IAGP |
|
HPO |
|
ORPHA:627 |
NCBI chr X:17,375,200...17,735,994
Ensembl chr X:17,375,200...17,735,994
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G |
NIPAL4 |
NIPA like domain containing 4 |
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IAGP |
|
HPO |
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ORPHA:313 |
NCBI chr 5:157,460,213...157,474,722
Ensembl chr 5:157,460,213...157,474,722
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G |
NOP10 |
NOP10 ribonucleoprotein |
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IAGP |
|
HPO |
|
ORPHA:1775 |
NCBI chr15:34,341,719...34,343,136
Ensembl chr15:34,339,159...34,343,180
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G |
NOTCH2 |
notch receptor 2 |
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IAGP |
|
HPO |
|
ORPHA:955 |
NCBI chr 1:119,911,553...120,069,662
Ensembl chr 1:119,911,553...120,100,779
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G |
NPM1 |
nucleophosmin 1 |
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IAGP |
|
HPO |
|
ORPHA:1775 |
NCBI chr 5:171,387,116...171,410,900
Ensembl chr 5:171,387,116...171,411,810
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G |
NSD1 |
nuclear receptor binding SET domain protein 1 |
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IAGP |
|
HPO |
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ORPHA:821 |
NCBI chr 5:177,131,798...177,300,213
Ensembl chr 5:177,131,830...177,300,213
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G |
NSMF |
NMDA receptor synaptonuclear signaling and neuronal migration factor |
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IAGP |
|
HPO |
|
ORPHA:432 |
NCBI chr 9:137,447,570...137,459,334
Ensembl chr 9:137,447,570...137,459,334
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G |
NSUN2 |
NOP2/Sun RNA methyltransferase 2 |
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IAGP |
|
HPO |
|
ORPHA:235 |
NCBI chr 5:6,599,239...6,633,044
Ensembl chr 5:6,599,239...6,633,291
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G |
NTRK1 |
neurotrophic receptor tyrosine kinase 1 |
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IAGP |
|
HPO |
|
ORPHA:64752 |
NCBI chr 1:156,815,750...156,881,850
Ensembl chr 1:156,815,636...156,881,850
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G |
NUP107 |
nucleoporin 107 |
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IAGP |
|
HPO |
|
ORPHA:2065 |
NCBI chr12:68,686,978...68,745,809
Ensembl chr12:68,686,951...68,745,809
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G |
NUP133 |
nucleoporin 133 |
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IAGP |
|
HPO |
|
ORPHA:2065 |
NCBI chr 1:229,440,259...229,508,341
Ensembl chr 1:229,440,259...229,508,341
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G |
NXN |
nucleoredoxin |
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IAGP |
|
HPO |
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MIM:618529 ORPHA:1507 |
NCBI chr17:799,310...979,776
Ensembl chr17:799,310...979,776
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OCRL |
OCRL inositol polyphosphate-5-phosphatase |
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IAGP |
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HPO |
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ORPHA:534 |
NCBI chr X:129,540,259...129,592,556
Ensembl chr X:129,539,849...129,592,561
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OFD1 |
OFD1 centriole and centriolar satellite protein |
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IAGP |
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HPO RGD |
PMID:16397067 |
ORPHA:2750, RGD:11535966 |
NCBI chr X:13,714,505...13,773,738
Ensembl chr X:13,734,743...13,777,955
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OSGEP |
O-sialoglycoprotein endopeptidase |
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IAGP |
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HPO |
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ORPHA:2065 |
NCBI chr14:20,446,401...20,454,812
Ensembl chr14:20,446,401...20,455,089
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PARN |
poly(A)-specific ribonuclease |
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IAGP |
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HPO |
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ORPHA:1775 |
NCBI chr16:14,435,701...14,630,260
Ensembl chr16:14,435,700...14,632,728
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PCGF2 |
polycomb group ring finger 2 |
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IAGP |
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HPO |
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MIM:618371 |
NCBI chr17:38,733,898...38,749,792
Ensembl chr17:38,733,898...38,749,817
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PERP |
p53 apoptosis effector related to PMP22 |
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IAGP |
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HPO |
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ORPHA:659 |
NCBI chr 6:138,088,505...138,107,419
Ensembl chr 6:138,088,505...138,107,419
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PEX1 |
peroxisomal biogenesis factor 1 |
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IAGP |
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HPO |
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ORPHA:3220 |
NCBI chr 7:92,487,025...92,528,520
Ensembl chr 7:92,487,020...92,528,520
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PEX6 |
peroxisomal biogenesis factor 6 |
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IAGP |
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HPO |
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ORPHA:3220 |
NCBI chr 6:42,963,865...42,979,181
Ensembl chr 6:42,963,865...42,979,181
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PGAP1 |
post-GPI attachment to proteins inositol deacylase 1 |
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IAGP |
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HPO |
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MIM:615802 |
NCBI chr 2:196,833,004...196,926,707
Ensembl chr 2:196,833,004...196,927,796
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PIGL |
phosphatidylinositol glycan anchor biosynthesis class L |
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IAGP |
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HPO |
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ORPHA:3474 |
NCBI chr17:16,217,210...16,326,411
Ensembl chr17:16,217,191...16,351,797
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PIGT |
phosphatidylinositol glycan anchor biosynthesis class T |
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IAGP |
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HPO |
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MIM:615398 |
NCBI chr20:45,416,141...45,426,241
Ensembl chr20:45,416,084...45,456,934
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PIK3C2A |
phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha |
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IAGP |
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HPO |
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ORPHA:557003 |
NCBI chr11:17,086,575...17,207,986
Ensembl chr11:17,077,730...17,207,986
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PIK3R1 |
phosphoinositide-3-kinase regulatory subunit 1 |
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IAGP |
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HPO |
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ORPHA:3163 |
NCBI chr 5:68,215,756...68,301,821
Ensembl chr 5:68,215,740...68,301,821
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PITX2 |
paired like homeodomain 2 |
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IAGP |
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HPO |
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MIM:137600 |
NCBI chr 4:110,617,423...110,642,123
Ensembl chr 4:110,617,423...110,642,123
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PKP1 |
plakophilin 1 |
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IAGP |
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HPO |
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ORPHA:158668 |
NCBI chr 1:201,283,506...201,332,989
Ensembl chr 1:201,283,452...201,332,993
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PLEC |
plectin |
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IAGP |
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HPO |
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ORPHA:79401 |
NCBI chr 8:143,915,153...143,976,745
Ensembl chr 8:143,915,153...143,976,734
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PLEKHM1 |
pleckstrin homology and RUN domain containing M1 |
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IAGP |
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HPO |
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ORPHA:210110 |
NCBI chr17:45,434,209...45,490,721
Ensembl chr17:45,435,900...45,490,758
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PLOD3 |
procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 |
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IAGP |
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HPO |
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MIM:612394 |
NCBI chr 7:101,205,984...101,217,581
Ensembl chr 7:101,205,977...101,218,420
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PNPLA6 |
patatin like phospholipase domain containing 6 |
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IAGP |
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HPO |
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ORPHA:3363 |
NCBI chr19:7,534,164...7,561,767
Ensembl chr19:7,534,004...7,561,764
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POC1A |
POC1 centriolar protein A |
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IAGP |
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HPO |
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MIM:614813 |
NCBI chr 3:52,075,226...52,154,423
Ensembl chr 3:52,075,226...52,154,690
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POF1B |
POF1B actin binding protein |
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IAGP |
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HPO |
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MIM:300604 |
NCBI chr X:85,277,396...85,379,665
Ensembl chr X:85,277,396...85,379,717
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POLR1B |
RNA polymerase I subunit B |
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IAGP |
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HPO |
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ORPHA:861 |
NCBI chr 2:112,542,036...112,579,818
Ensembl chr 2:112,541,915...112,579,818
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POLR1C |
RNA polymerase I and III subunit C |
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IAGP |
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HPO |
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MIM:616494 ORPHA:861 |
NCBI chr 6:43,517,089...43,562,407
Ensembl chr 6:43,509,702...43,562,419
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POLR1D |
RNA polymerase I and III subunit D |
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IAGP |
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HPO |
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ORPHA:861 |
NCBI chr13:27,620,743...27,667,411
Ensembl chr13:27,620,742...27,744,237
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POLR3A |
RNA polymerase III subunit A |
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IAGP |
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HPO |
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ORPHA:3455 |
NCBI chr10:77,975,149...78,029,515
Ensembl chr10:77,953,148...78,029,522
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PORCN |
porcupine O-acyltransferase |
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IAGP |
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HPO |
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ORPHA:2092 |
NCBI chr X:48,508,992...48,520,814
Ensembl chr X:48,508,959...48,520,814
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PRDM5 |
PR/SET domain 5 |
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IAGP |
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HPO |
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ORPHA:90354 |
NCBI chr 4:120,684,291...120,922,726
Ensembl chr 4:120,684,919...120,922,870
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PRKACA |
protein kinase cAMP-activated catalytic subunit alpha |
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IAGP |
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HPO |
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ORPHA:289 |
NCBI chr19:14,091,688...14,117,762
Ensembl chr19:14,091,688...14,118,084
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PRKACB |
protein kinase cAMP-activated catalytic subunit beta |
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IAGP |
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HPO |
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ORPHA:289 |
NCBI chr 1:84,078,079...84,238,498
Ensembl chr 1:84,078,062...84,238,498
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PRMT7 |
protein arginine methyltransferase 7 |
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IAGP |
ClinVar Annotator: match by term: Abnormality of the dentition |
ClinVar |
PMID:25741868 PMID:26437029 PMID:27718516 PMID:28492532 PMID:28902392 |
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NCBI chr16:68,311,019...68,360,870
Ensembl chr16:68,310,951...68,360,852
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PROK2 |
prokineticin 2 |
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IAGP |
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HPO |
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ORPHA:432 |
NCBI chr 3:71,771,655...71,785,148
Ensembl chr 3:71,771,655...71,785,206
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PROKR2 |
prokineticin receptor 2 |
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IAGP |
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HPO |
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ORPHA:432 |
NCBI chr20:5,299,218...5,316,954
Ensembl chr20:5,299,218...5,316,954
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PTDSS1 |
phosphatidylserine synthase 1 |
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IAGP |
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HPO |
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MIM:151050 |
NCBI chr 8:96,261,902...96,336,995
Ensembl chr 8:96,261,902...96,336,995
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RAD21 |
RAD21 cohesin complex component |
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IAGP |
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HPO |
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ORPHA:502 |
NCBI chr 8:116,845,934...116,874,776
Ensembl chr 8:116,845,934...116,874,776
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RAI1 |
retinoic acid induced 1 |
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IAGP |
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HPO |
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MIM:182290 ORPHA:819 |
NCBI chr17:17,681,458...17,811,453
Ensembl chr17:17,681,458...17,811,453
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RECQL4 |
RecQ like helicase 4 |
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IAGP |
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HPO |
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ORPHA:221016 |
NCBI chr 8:144,511,288...144,517,833
Ensembl chr 8:144,511,288...144,517,845
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RIGI |
RNA sensor RIG-I |
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IAGP |
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HPO |
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MIM:616298 |
NCBI chr 9:32,455,302...32,526,196
Ensembl chr 9:32,455,302...32,526,348
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ROR2 |
receptor tyrosine kinase like orphan receptor 2 |
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IAGP |
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HPO |
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ORPHA:1507 |
NCBI chr 9:91,722,601...91,950,228
Ensembl chr 9:91,563,091...91,950,228
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RPL21 |
ribosomal protein L21 |
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IAGP |
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HPO |
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MIM:615885 |
NCBI chr13:27,251,558...27,256,568
Ensembl chr13:27,251,362...27,259,609
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RREB1 |
ras responsive element binding protein 1 |
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IAGP |
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HPO |
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ORPHA:567 |
NCBI chr 6:7,107,743...7,251,980
Ensembl chr 6:7,107,597...7,251,980
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RSPRY1 |
ring finger and SPRY domain containing 1 |
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IAGP |
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HPO |
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ORPHA:457395 |
NCBI chr16:57,186,152...57,240,469
Ensembl chr16:57,186,137...57,240,469
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RTEL1 |
regulator of telomere elongation helicase 1 |
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IAGP |
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HPO |
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ORPHA:1775 |
NCBI chr20:63,657,810...63,696,253
Ensembl chr20:63,657,810...63,696,253
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RUNX2 |
RUNX family transcription factor 2 |
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IAGP |
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HPO |
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ORPHA:1452 |
NCBI chr 6:45,328,330...45,551,082
Ensembl chr 6:45,328,157...45,664,349
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SATB2 |
SATB homeobox 2 |
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IAGP |
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HPO |
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ORPHA:251028 ORPHA:576283 |
NCBI chr 2:199,269,500...199,471,266
Ensembl chr 2:199,269,505...199,471,266
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SCUBE3 |
signal peptide, CUB domain and EGF like domain containing 3 |
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IAGP |
ClinVar Annotator: match by term: Dental problems ClinVar Annotator: match by term: Abnormality of the dentition |
ClinVar |
PMID:25741868 PMID:33308444 |
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NCBI chr 6:35,213,956...35,253,079
Ensembl chr 6:35,213,956...35,253,079
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SDR9C7 |
short chain dehydrogenase/reductase family 9C member 7 |
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IAGP |
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HPO |
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ORPHA:313 |
NCBI chr12:56,923,133...56,934,408
Ensembl chr12:56,923,133...56,934,408
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SEC24C |
SEC24 homolog C, COPII coat complex component |
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IAGP |
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HPO |
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ORPHA:567 |
NCBI chr10:73,744,372...73,772,161
Ensembl chr10:73,744,372...73,772,161
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SH3BP2 |
SH3 domain binding protein 2 |
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IAGP |
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HPO |
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ORPHA:184 |
NCBI chr 4:2,793,085...2,841,096
Ensembl chr 4:2,793,023...2,841,291
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SIN3A |
SIN3 transcription regulator family member A |
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IAGP |
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HPO |
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ORPHA:500166 ORPHA:94065 |
NCBI chr15:75,369,379...75,455,815
Ensembl chr15:75,369,379...75,455,842
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SIN3B |
SIN3 transcription regulator family member B |
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IAGP |
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HPO |
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ORPHA:500166 |
NCBI chr19:16,829,398...16,880,349
Ensembl chr19:16,829,398...16,880,353
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SLC25A24 |
solute carrier family 25 member 24 |
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IAGP |
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HPO |
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ORPHA:2095 |
NCBI chr 1:108,134,043...108,200,343
Ensembl chr 1:108,134,043...108,200,849
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SNAP29 |
synaptosome associated protein 29 |
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IAGP |
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HPO |
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ORPHA:66631 |
NCBI chr22:20,859,007...20,891,214
Ensembl chr22:20,859,007...20,891,214
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SON |
SON DNA and RNA binding protein |
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IAGP |
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HPO |
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MIM:617140 |
NCBI chr21:33,543,038...33,577,481
Ensembl chr21:33,543,038...33,577,481
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SOX18 |
SRY-box transcription factor 18 |
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IAGP |
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HPO |
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MIM:607823 |
NCBI chr20:64,047,582...64,049,639
Ensembl chr20:64,047,582...64,049,639
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SPRY4 |
sprouty RTK signaling antagonist 4 |
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IAGP |
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HPO |
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MIM:615266 ORPHA:432 |
NCBI chr 5:142,310,430...142,325,021
Ensembl chr 5:142,310,427...142,326,455
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STAT3 |
signal transducer and activator of transcription 3 |
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IAGP |
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HPO |
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MIM:615952 ORPHA:2314 |
NCBI chr17:42,313,324...42,388,442
Ensembl chr17:42,313,324...42,388,568
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SULT2B1 |
sulfotransferase family 2B member 1 |
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IAGP |
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HPO |
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ORPHA:313 |
NCBI chr19:48,552,172...48,599,427
Ensembl chr19:48,552,172...48,599,425
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TAC3 |
tachykinin precursor 3 |
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IAGP |
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HPO |
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ORPHA:432 |
NCBI chr12:57,010,000...57,016,529
Ensembl chr12:57,010,000...57,028,883
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TACR3 |
tachykinin receptor 3 |
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IAGP |
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HPO |
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ORPHA:432 |
NCBI chr 4:103,586,031...103,719,985
Ensembl chr 4:103,586,031...103,719,985
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TBC1D24 |
TBC1 domain family member 24 |
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IAGP |
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HPO |
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ORPHA:79500 |
NCBI chr16:2,475,127...2,505,730
Ensembl chr16:2,475,051...2,509,671
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TBCE |
tubulin folding cofactor E |
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IAGP |
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HPO |
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ORPHA:2323 |
NCBI chr 1:235,367,427...235,452,443
Ensembl chr 1:235,367,360...235,452,443
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TBX1 |
T-box transcription factor 1 |
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IAGP |
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HPO |
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ORPHA:567 |
NCBI chr22:19,756,703...19,783,593
Ensembl chr22:19,756,703...19,783,593
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TCIRG1 |
T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 |
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IAGP |
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HPO |
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ORPHA:210110 |
NCBI chr11:68,039,025...68,053,762
Ensembl chr11:68,039,025...68,050,895
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TCOF1 |
treacle ribosome biogenesis factor 1 |
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IAGP |
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HPO |
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ORPHA:861 |
NCBI chr 5:150,357,697...150,400,293
Ensembl chr 5:150,357,629...150,400,308
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TENT5A |
terminal nucleotidyltransferase 5A |
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IAGP |
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HPO |
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MIM:617952 |
NCBI chr 6:81,745,730...81,752,681
Ensembl chr 6:81,491,439...81,752,774
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TERC |
telomerase RNA component |
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IAGP |
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HPO |
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ORPHA:1775 |
NCBI chr 3:169,764,610...169,765,060
Ensembl chr 3:169,764,610...169,765,047 Ensembl chr 3:169,764,610...169,765,047
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TERT |
telomerase reverse transcriptase |
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IAGP |
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HPO |
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MIM:613989 ORPHA:1775 |
NCBI chr 5:1,253,167...1,295,068
Ensembl chr 5:1,253,147...1,295,068
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TFAP2A |
transcription factor AP-2 alpha |
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IAGP |
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HPO |
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MIM:113620 |
NCBI chr 6:10,396,677...10,419,659
Ensembl chr 6:10,393,186...10,419,659
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TGM1 |
transglutaminase 1 |
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IAGP |
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HPO |
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ORPHA:313 |
NCBI chr14:24,249,114...24,263,177
Ensembl chr14:24,249,114...24,264,432
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THOC6 |
THO complex subunit 6 |
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IAGP |
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HPO |
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ORPHA:363444 |
NCBI chr16:3,024,035...3,027,750
Ensembl chr16:3,024,027...3,027,755
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TINF2 |
TERF1 interacting nuclear factor 2 |
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IAGP |
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HPO |
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ORPHA:1775 |
NCBI chr14:24,239,640...24,242,674
Ensembl chr14:24,238,286...24,242,663
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TNFRSF11A |
TNF receptor superfamily member 11a |
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IAGP |
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HPO |
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ORPHA:2801 |
NCBI chr18:62,325,310...62,391,288
Ensembl chr18:62,325,287...62,391,288
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TNFRSF11B |
TNF receptor superfamily member 11b |
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IAGP |
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HPO |
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ORPHA:2801 |
NCBI chr 8:118,923,557...118,951,885
Ensembl chr 8:118,923,557...118,951,885
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TONSL |
tonsoku like, DNA repair protein |
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IAGP |
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HPO |
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MIM:271510 |
NCBI chr 8:144,428,775...144,444,440
Ensembl chr 8:144,428,775...144,444,440
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TP53RK |
TP53 regulating kinase |
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IAGP |
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HPO |
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ORPHA:2065 |
NCBI chr20:46,684,365...46,689,444
Ensembl chr20:46,684,365...46,689,444
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TP63 |
tumor protein p63 |
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IAGP |
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HPO |
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ORPHA:978 |
NCBI chr 3:189,596,746...189,897,276
Ensembl chr 3:189,631,389...189,897,276
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TPRKB |
TP53RK binding protein |
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IAGP |
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HPO |
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ORPHA:2065 |
NCBI chr 2:73,729,873...73,737,345
Ensembl chr 2:73,729,104...73,737,400
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TRAF6 |
TNF receptor associated factor 6 |
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IAGP |
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HPO |
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ORPHA:1810 |
NCBI chr11:36,483,769...36,510,272
Ensembl chr11:36,483,769...36,510,272
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TRIO |
trio Rho guanine nucleotide exchange factor |
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IAGP |
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HPO |
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ORPHA:476126 |
NCBI chr 5:14,143,342...14,510,204
Ensembl chr 5:14,143,342...14,532,128
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TRPS1 |
transcriptional repressor GATA binding 1 |
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IAGP |
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HPO |
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ORPHA:502 ORPHA:77258 |
NCBI chr 8:115,408,496...115,668,975
Ensembl chr 8:115,408,496...115,809,673
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TRPV3 |
transient receptor potential cation channel subfamily V member 3 |
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IAGP |
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HPO |
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ORPHA:659 |
NCBI chr17:3,510,502...3,557,812
Ensembl chr17:3,510,502...3,557,812
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TTI2 |
TELO2 interacting protein 2 |
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IAGP |
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HPO |
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ORPHA:391307 |
NCBI chr 8:33,498,722...33,513,135
Ensembl chr 8:33,473,386...33,513,185
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TYMS |
thymidylate synthetase |
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IAGP |
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HPO |
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MIM:620040 ORPHA:1775 |
NCBI chr18:657,653...673,578
Ensembl chr18:657,653...673,578
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UBR1 |
ubiquitin protein ligase E3 component n-recognin 1 |
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IAGP |
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HPO |
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ORPHA:2315 |
NCBI chr15:42,942,897...43,106,038
Ensembl chr15:42,942,897...43,106,113
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UFD1 |
ubiquitin recognition factor in ER associated degradation 1 |
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IAGP |
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HPO |
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ORPHA:567 |
NCBI chr22:19,449,911...19,479,193
Ensembl chr22:19,449,911...19,479,202
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UPF3B |
UPF3B regulator of nonsense mediated mRNA decay |
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IAGP |
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HPO |
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ORPHA:776 |
NCBI chr X:119,805,311...119,852,963
Ensembl chr X:119,834,022...119,852,998
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USB1 |
U6 snRNA biogenesis phosphodiesterase 1 |
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IAGP |
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HPO |
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ORPHA:1775 |
NCBI chr16:57,999,603...58,021,618
Ensembl chr16:57,999,546...58,021,618
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G |
USP9X |
ubiquitin specific peptidase 9 X-linked |
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IAGP |
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HPO |
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MIM:300968 ORPHA:480880 |
NCBI chr X:41,085,445...41,236,579
Ensembl chr X:41,085,445...41,236,579
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VDR |
vitamin D receptor |
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IAGP |
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HPO |
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ORPHA:93160 |
NCBI chr12:47,841,537...47,904,994
Ensembl chr12:47,841,537...47,943,048
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VPS13B |
vacuolar protein sorting 13 homolog B |
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IAGP |
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HPO |
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ORPHA:193 |
NCBI chr 8:99,013,274...99,877,580
Ensembl chr 8:99,013,266...99,877,580
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WDR11 |
WD repeat domain 11 |
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IAGP |
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HPO |
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ORPHA:432 |
NCBI chr10:120,851,362...120,909,524
Ensembl chr10:120,851,305...120,909,524
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WDR19 |
WD repeat domain 19 |
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IAGP |
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HPO |
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ORPHA:1515 |
NCBI chr 4:39,182,529...39,285,810
Ensembl chr 4:39,182,504...39,285,810
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WDR35 |
WD repeat domain 35 |
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IAGP |
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HPO |
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ORPHA:1515 |
NCBI chr 2:19,910,263...19,990,105
Ensembl chr 2:19,910,263...19,990,105
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WDR4 |
WD repeat domain 4 |
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IAGP |
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HPO |
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ORPHA:2065 |
NCBI chr21:42,843,094...42,892,998
Ensembl chr21:42,843,094...42,879,568
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WDR73 |
WD repeat domain 73 |
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IAGP |
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HPO |
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ORPHA:2065 |
NCBI chr15:84,639,285...84,654,283
Ensembl chr15:84,639,285...84,654,343
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WNK3 |
WNK lysine deficient protein kinase 3 |
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IAGP |
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HPO |
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MIM:309610 |
NCBI chr X:54,192,823...54,358,900
Ensembl chr X:54,192,823...54,358,642
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WNT10A |
Wnt family member 10A |
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IAGP |
ClinVar Annotator: match by term: Abnormality of the dentition |
ClinVar |
PMID:25741868 PMID:35537890 |
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NCBI chr 2:218,874,116...218,893,928
Ensembl chr 2:218,880,852...218,899,581
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WRAP53 |
WD repeat containing antisense to TP53 |
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IAGP |
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HPO |
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ORPHA:1775 |
NCBI chr17:7,686,071...7,703,502
Ensembl chr17:7,686,071...7,703,502
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XPA |
XPA, DNA damage recognition and repair factor |
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IAGP |
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HPO |
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ORPHA:910 |
NCBI chr 9:97,654,398...97,697,340
Ensembl chr 9:97,674,909...97,697,340
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XPC |
XPC complex subunit, DNA damage recognition and repair factor |
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IAGP |
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HPO |
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ORPHA:910 |
NCBI chr 3:14,145,147...14,178,601
Ensembl chr 3:14,145,145...14,178,621
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XYLT2 |
xylosyltransferase 2 |
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IAGP |
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HPO |
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MIM:605822 |
NCBI chr17:50,346,126...50,361,185
Ensembl chr17:50,346,126...50,363,138
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G |
YRDC |
yrdC N6-threonylcarbamoyltransferase domain containing |
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IAGP |
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HPO |
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ORPHA:2065 |
NCBI chr 1:37,802,945...37,808,208
Ensembl chr 1:37,802,945...37,808,208
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YY1 |
YY1 transcription factor |
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IAGP |
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HPO |
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MIM:617557 ORPHA:506358 |
NCBI chr14:100,239,144...100,282,788
Ensembl chr14:100,238,298...100,282,788
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G |
ZDHHC9 |
zinc finger DHHC-type palmitoyltransferase 9 |
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IAGP |
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HPO |
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ORPHA:776 |
NCBI chr X:129,803,288...129,843,886
Ensembl chr X:129,803,288...129,843,909
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G |
ZMPSTE24 |
zinc metallopeptidase STE24 |
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IAGP |
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HPO |
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ORPHA:90154 |
NCBI chr 1:40,258,236...40,294,180
Ensembl chr 1:40,258,041...40,294,180
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ZNF341 |
zinc finger protein 341 |
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IAGP |
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HPO |
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MIM:618282 |
NCBI chr20:33,731,996...33,792,269
Ensembl chr20:33,731,657...33,792,269
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G |
ZNF469 |
zinc finger protein 469 |
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IAGP |
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HPO |
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ORPHA:90354 |
NCBI chr16:88,100,931...88,440,753
Ensembl chr16:88,382,959...88,440,757
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ADGRV1 |
adhesion G protein-coupled receptor V1 |
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IAGP |
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HPO |
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ORPHA:231178 |
NCBI chr 5:90,558,797...91,164,437
Ensembl chr 5:90,529,344...91,164,437
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G |
AKT1 |
AKT serine/threonine kinase 1 |
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IAGP |
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HPO |
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ORPHA:744 |
NCBI chr14:104,769,349...104,795,748
Ensembl chr14:104,769,349...104,795,759
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ALDH3A2 |
aldehyde dehydrogenase 3 family member A2 |
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IAGP |
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HPO |
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ORPHA:816 |
NCBI chr17:19,648,136...19,677,596
Ensembl chr17:19,648,136...19,685,760
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ANAPC1 |
anaphase promoting complex subunit 1 |
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IAGP |
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HPO |
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ORPHA:221008 |
NCBI chr 2:111,766,231...111,884,193
Ensembl chr 2:111,611,639...111,884,690
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APC |
APC regulator of WNT signaling pathway |
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IAGP |
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HPO |
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ORPHA:3258 |
NCBI chr 5:112,707,498...112,846,239
Ensembl chr 5:112,707,518...112,846,239
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G |
ARVCF |
ARVCF delta catenin family member |
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IAGP |
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HPO |
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ORPHA:567 |
NCBI chr22:19,965,134...20,016,823
Ensembl chr22:19,969,896...20,016,823
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G |
ATR |
ATR serine/threonine kinase |
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IAGP |
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HPO |
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ORPHA:808 |
NCBI chr 3:142,449,235...142,578,733
Ensembl chr 3:142,449,007...142,578,733
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G |
ATRIP |
ATR interacting protein |
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IAGP |
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HPO |
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ORPHA:808 |
NCBI chr 3:48,446,737...48,467,645
Ensembl chr 3:48,446,710...48,467,645
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G |
BAZ1B |
bromodomain adjacent to zinc finger domain 1B |
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IAGP |
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HPO |
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ORPHA:904 |
NCBI chr 7:73,440,406...73,522,293
Ensembl chr 7:73,440,406...73,522,293
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BMP4 |
bone morphogenetic protein 4 |
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IAGP |
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HPO |
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ORPHA:828 |
NCBI chr14:53,949,736...53,956,891
Ensembl chr14:53,949,736...53,958,761
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G |
BUD23 |
BUD23 rRNA methyltransferase and ribosome maturation factor |
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IAGP |
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HPO |
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ORPHA:904 |
NCBI chr 7:73,683,597...73,698,212
Ensembl chr 7:73,683,597...73,698,212
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G |
CCDC8 |
coiled-coil domain containing 8 |
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IAGP |
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HPO |
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ORPHA:2616 |
NCBI chr19:46,410,329...46,413,564
Ensembl chr19:46,410,329...46,413,564
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G |
CDH23 |
cadherin related 23 |
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IAGP |
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HPO |
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ORPHA:231169 |
NCBI chr10:71,396,920...71,815,947
Ensembl chr10:71,396,920...71,815,947
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CENPE |
centromere protein E |
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IAGP |
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HPO |
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ORPHA:808 |
NCBI chr 4:103,105,811...103,198,343
Ensembl chr 4:103,105,349...103,198,445
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G |
CEP152 |
centrosomal protein 152 |
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IAGP |
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HPO |
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ORPHA:808 |
NCBI chr15:48,729,083...48,811,069
Ensembl chr15:48,712,928...48,811,146
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CIB2 |
calcium and integrin binding family member 2 |
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IAGP |
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HPO |
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ORPHA:231169 |
NCBI chr15:78,104,606...78,131,535
Ensembl chr15:78,104,606...78,131,535
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G |
CLDN1 |
claudin 1 |
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IAGP |
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HPO |
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ORPHA:59303 |
NCBI chr 3:190,305,707...190,322,446
Ensembl chr 3:190,305,707...190,322,446
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G |
CLEC7A |
C-type lectin domain containing 7A |
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IAGP |
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HPO |
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ORPHA:1334 |
NCBI chr12:10,116,777...10,130,304
Ensembl chr12:10,116,777...10,130,258
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G |
CLIP2 |
CAP-Gly domain containing linker protein 2 |
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IAGP |
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HPO |
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ORPHA:904 |
NCBI chr 7:74,289,407...74,405,935
Ensembl chr 7:74,289,407...74,405,935
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G |
CNNM4 |
cyclin and CBS domain divalent metal cation transport mediator 4 |
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IAGP |
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HPO |
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ORPHA:1873 |
NCBI chr 2:96,760,902...96,811,874
Ensembl chr 2:96,760,902...96,811,874
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G |
COL7A1 |
collagen type VII alpha 1 chain |
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IAGP |
ClinVar Annotator: match by term: Abnormal dental enamel morphology |
ClinVar |
PMID:8037207 PMID:12787275 PMID:16971478 PMID:22266148 PMID:25741868 PMID:28492532 PMID:28830826 PMID:32860008 PMID:35979658 PMID:36287101 More...
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NCBI chr 3:48,564,073...48,595,329
Ensembl chr 3:48,564,073...48,595,329
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G |
COMT |
catechol-O-methyltransferase |
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IAGP |
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HPO |
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ORPHA:567 |
NCBI chr22:19,941,772...19,969,975
Ensembl chr22:19,941,371...19,969,975
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G |
COX7B |
cytochrome c oxidase subunit 7B |
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IAGP |
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HPO |
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ORPHA:2556 |
NCBI chr X:77,899,468...77,907,376
Ensembl chr X:77,899,440...77,907,376
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G |
CRTAP |
cartilage associated protein |
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IAGP |
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HPO |
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ORPHA:2050 |
NCBI chr 3:33,114,014...33,147,773
Ensembl chr 3:33,114,014...33,147,773
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G |
CUL7 |
cullin 7 |
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IAGP |
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HPO |
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ORPHA:2616 |
NCBI chr 6:43,037,617...43,053,851
Ensembl chr 6:43,037,617...43,053,943
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G |
DHCR7 |
7-dehydrocholesterol reductase |
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IAGP |
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HPO |
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ORPHA:818 |
NCBI chr11:71,427,287...71,449,043
Ensembl chr11:71,428,193...71,452,868
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DNA2 |
DNA replication helicase/nuclease 2 |
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IAGP |
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HPO |
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ORPHA:808 |
NCBI chr10:68,414,064...68,472,521
Ensembl chr10:68,414,064...68,472,121
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G |
DNAJC30 |
DnaJ heat shock protein family (Hsp40) member C30 |
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IAGP |
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HPO |
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ORPHA:904 |
NCBI chr 7:73,680,918...73,683,453
Ensembl chr 7:73,680,918...73,683,453
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G |
EIF4H |
eukaryotic translation initiation factor 4H |
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IAGP |
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HPO |
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ORPHA:904 |
NCBI chr 7:74,174,356...74,197,096
Ensembl chr 7:74,174,231...74,197,122
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G |
ELMO2 |
engulfment and cell motility 2 |
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IAGP |
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HPO |
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ORPHA:3019 |
NCBI chr20:46,366,050...46,406,615
Ensembl chr20:46,366,050...46,432,985
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G |
ELN |
elastin |
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IAGP |
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HPO |
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ORPHA:904 |
NCBI chr 7:74,028,173...74,069,907
Ensembl chr 7:74,027,789...74,069,907
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G |
ESPN |
espin |
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IAGP |
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HPO |
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ORPHA:231169 |
NCBI chr 1:6,424,776...6,461,370
Ensembl chr 1:6,424,776...6,461,367
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G |
FAM20A |
FAM20A golgi associated secretory pathway pseudokinase |
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IAGP |
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HPO |
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ORPHA:1031 |
NCBI chr17:68,535,116...68,601,367
Ensembl chr17:68,535,113...68,601,367
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G |
FERMT1 |
FERM domain containing kindlin 1 |
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IAGP |
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HPO |
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ORPHA:2908 |
NCBI chr20:6,074,845...6,123,030
Ensembl chr20:6,074,845...6,123,214
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G |
FGF10 |
fibroblast growth factor 10 |
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IAGP |
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HPO |
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ORPHA:2363 |
NCBI chr 5:44,300,247...44,389,420
Ensembl chr 5:44,300,247...44,389,706
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G |
FGF3 |
fibroblast growth factor 3 |
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IAGP |
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HPO |
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ORPHA:2791 |
NCBI chr11:69,809,968...69,819,416
Ensembl chr11:69,809,968...69,819,416
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G |
FGFR2 |
fibroblast growth factor receptor 2 |
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IAGP |
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HPO |
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ORPHA:2363 |
NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458
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G |
FGFR3 |
fibroblast growth factor receptor 3 |
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IAGP |
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HPO |
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ORPHA:2363 |
NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872
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G |
FKBP6 |
FKBP prolyl isomerase family member 6 (inactive) |
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IAGP |
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HPO |
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ORPHA:904 |
NCBI chr 7:73,328,161...73,358,625
Ensembl chr 7:73,328,161...73,358,637
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G |
GJA1 |
gap junction protein alpha 1 |
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IAGP |
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HPO |
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ORPHA:2710 |
NCBI chr 6:121,435,646...121,449,727
Ensembl chr 6:121,435,595...121,449,727
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G |
GP1BB |
glycoprotein Ib platelet subunit beta |
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IAGP |
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HPO |
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ORPHA:567 |
NCBI chr22:19,723,539...19,724,771
Ensembl chr22:19,723,539...19,724,771
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G |
GTF2I |
general transcription factor IIi |
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IAGP |
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HPO |
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ORPHA:904 |
NCBI chr 7:74,657,718...74,760,692
Ensembl chr 7:74,650,231...74,760,692
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G |
GTF2IRD1 |
GTF2I repeat domain containing 1 |
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IAGP |
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HPO |
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ORPHA:904 |
NCBI chr 7:74,453,906...74,602,605
Ensembl chr 7:74,453,790...74,602,605
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G |
GTF2IRD2 |
GTF2I repeat domain containing 2 |
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IAGP |
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HPO |
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ORPHA:904 |
NCBI chr 7:74,796,151...74,851,605
Ensembl chr 7:74,796,151...74,851,605
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G |
HCCS |
holocytochrome c synthase |
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IAGP |
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HPO |
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ORPHA:2556 |
NCBI chr X:11,111,332...11,123,086
Ensembl chr X:11,111,301...11,123,086
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G |
HIRA |
histone cell cycle regulator |
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IAGP |
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HPO |
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ORPHA:567 |
NCBI chr22:19,330,698...19,431,733
Ensembl chr22:19,330,698...19,447,450
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G |
HRAS |
HRas proto-oncogene, GTPase |
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IAGP |
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HPO |
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ORPHA:3071 |
NCBI chr11:532,242...535,576
Ensembl chr11:532,242...537,321
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G |
IFT122 |
intraflagellar transport 122 |
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IAGP |
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HPO |
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ORPHA:1515 |
NCBI chr 3:129,440,224...129,520,507
Ensembl chr 3:129,429,607...129,520,510
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G |
IFT43 |
intraflagellar transport 43 |
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IAGP |
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HPO |
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ORPHA:1515 |
NCBI chr14:75,985,763...76,084,073
Ensembl chr14:75,902,136...76,084,585
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G |
IFT52 |
intraflagellar transport 52 |
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IAGP |
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HPO |
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ORPHA:1515 |
NCBI chr20:43,590,937...43,647,299
Ensembl chr20:43,590,937...43,647,299
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G |
IKBKG |
inhibitor of nuclear factor kappa B kinase regulatory subunit gamma |
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IAGP |
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HPO |
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ORPHA:464 |
NCBI chr X:154,541,238...154,565,046
Ensembl chr X:154,541,199...154,565,046
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G |
IL17F |
interleukin 17F |
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IAGP |
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HPO |
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ORPHA:1334 |
NCBI chr 6:52,236,681...52,245,689
Ensembl chr 6:52,236,681...52,245,689
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G |
IL17RA |
interleukin 17 receptor A |
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IAGP |
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HPO |
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ORPHA:1334 |
NCBI chr22:17,085,000...17,115,693
Ensembl chr22:17,084,954...17,115,693
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G |
IL17RC |
interleukin 17 receptor C |
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IAGP |
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HPO |
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ORPHA:1334 |
NCBI chr 3:9,917,098...9,933,621
Ensembl chr 3:9,917,074...9,933,630
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G |
JMJD1C |
jumonji domain containing 1C |
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IAGP |
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HPO |
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ORPHA:567 |
NCBI chr10:63,167,225...63,521,890
Ensembl chr10:63,167,221...63,521,850
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G |
LIMK1 |
LIM domain kinase 1 |
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IAGP |
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HPO |
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ORPHA:904 |
NCBI chr 7:74,083,804...74,122,525
Ensembl chr 7:74,082,933...74,122,525
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G |
LONP1 |
lon peptidase 1, mitochondrial |
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IAGP |
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HPO |
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ORPHA:1458 |
NCBI chr19:5,691,834...5,720,452
Ensembl chr19:5,691,834...5,720,572
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G |
LRP4 |
LDL receptor related protein 4 |
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IAGP |
|
HPO |
|
ORPHA:3258 |
NCBI chr11:46,856,717...46,918,550
Ensembl chr11:46,856,717...46,918,642
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G |
MBTPS2 |
membrane bound transcription factor peptidase, site 2 |
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IAGP |
|
HPO |
|
ORPHA:2273 |
NCBI chr X:21,839,617...21,885,423
Ensembl chr X:21,839,617...21,885,423
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G |
METTL27 |
methyltransferase like 27 |
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IAGP |
|
HPO |
|
ORPHA:904 |
NCBI chr 7:73,834,590...73,842,516
Ensembl chr 7:73,834,590...73,842,516
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G |
MFN2 |
mitofusin 2 |
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IAGP |
ClinVar Annotator: match by term: Abnormal dental enamel morphology |
ClinVar |
PMID:15064763 PMID:16437557 PMID:16714318 PMID:16835246 PMID:17215403 PMID:17296794 PMID:19889647 PMID:20418531 PMID:21285398 PMID:21508331 PMID:22442078 PMID:24126688 PMID:24604904 PMID:24862862 PMID:24863639 PMID:25025039 PMID:25741868 PMID:26085578 PMID:26382835 PMID:26467025 PMID:26686600 PMID:26801520 PMID:27549087 PMID:27863451 PMID:28492532 PMID:31130284 PMID:31188717 PMID:31832804 PMID:32376792 PMID:33475540 PMID:33841295 PMID:34366782 PMID:35938991 More...
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NCBI chr 1:11,980,444...12,013,508
Ensembl chr 1:11,980,181...12,015,211
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G |
MYO7A |
myosin VIIA |
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IAGP |
|
HPO |
|
ORPHA:231169 ORPHA:231178 |
NCBI chr11:77,128,246...77,215,241
Ensembl chr11:77,128,246...77,215,241
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G |
NCF1 |
neutrophil cytosolic factor 1 |
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IAGP |
|
HPO |
|
ORPHA:904 |
NCBI chr 7:74,774,011...74,789,315
Ensembl chr 7:74,774,011...74,789,315
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G |
NDUFB11 |
NADH:ubiquinone oxidoreductase subunit B11 |
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IAGP |
|
HPO |
|
ORPHA:2556 |
NCBI chr X:47,142,216...47,145,491
Ensembl chr X:47,142,071...47,145,466
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G |
NECTIN1 |
nectin cell adhesion molecule 1 |
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IAGP |
|
HPO |
|
ORPHA:3253 |
NCBI chr11:119,638,098...119,729,200
Ensembl chr11:119,623,408...119,729,200
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G |
NF1 |
neurofibromin 1 |
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IAGP |
|
HPO |
|
ORPHA:139474 |
NCBI chr17:31,094,927...31,377,677
Ensembl chr17:31,094,927...31,382,116
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G |
NUP85 |
nucleoporin 85 |
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IAGP |
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HPO |
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ORPHA:808 |
NCBI chr17:75,205,679...75,235,758
Ensembl chr17:75,205,659...75,235,758
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OBSL1 |
obscurin like cytoskeletal adaptor 1 |
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IAGP |
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HPO |
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ORPHA:2616 |
NCBI chr 2:219,547,206...219,571,539
Ensembl chr 2:219,550,728...219,571,859
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OCRL |
OCRL inositol polyphosphate-5-phosphatase |
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IAGP |
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HPO |
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ORPHA:534 |
NCBI chr X:129,540,259...129,592,556
Ensembl chr X:129,539,849...129,592,561
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OFD1 |
OFD1 centriole and centriolar satellite protein |
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IAGP |
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HPO |
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ORPHA:2750 |
NCBI chr X:13,714,505...13,773,738
Ensembl chr X:13,734,743...13,777,955
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P4HB |
prolyl 4-hydroxylase subunit beta |
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IAGP |
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HPO |
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ORPHA:2050 |
NCBI chr17:81,843,166...81,860,535
Ensembl chr17:81,843,159...81,860,856
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PCDH15 |
protocadherin related 15 |
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IAGP |
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HPO |
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ORPHA:231169 |
NCBI chr10:53,802,771...55,627,942
Ensembl chr10:53,802,771...55,627,942
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PCNT |
pericentrin |
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IAGP |
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HPO |
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ORPHA:808 |
NCBI chr21:46,324,156...46,445,769
Ensembl chr21:46,324,124...46,445,769
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PDE4D |
phosphodiesterase 4D |
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IAGP |
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HPO |
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ORPHA:439822 |
NCBI chr 5:58,969,038...60,522,128
Ensembl chr 5:58,969,038...60,522,120
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PDZD7 |
PDZ domain containing 7 |
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IAGP |
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HPO |
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ORPHA:231178 |
NCBI chr10:101,007,679...101,031,129
Ensembl chr10:101,007,679...101,032,295
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PEX1 |
peroxisomal biogenesis factor 1 |
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IAGP |
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HPO |
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ORPHA:3220 |
NCBI chr 7:92,487,025...92,528,520
Ensembl chr 7:92,487,020...92,528,520
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PEX6 |
peroxisomal biogenesis factor 6 |
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IAGP |
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HPO |
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ORPHA:3220 |
NCBI chr 6:42,963,865...42,979,181
Ensembl chr 6:42,963,865...42,979,181
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PIK3R1 |
phosphoinositide-3-kinase regulatory subunit 1 |
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IAGP |
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HPO |
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ORPHA:3163 |
NCBI chr 5:68,215,756...68,301,821
Ensembl chr 5:68,215,740...68,301,821
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PLEC |
plectin |
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IAGP |
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HPO |
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ORPHA:257 |
NCBI chr 8:143,915,153...143,976,745
Ensembl chr 8:143,915,153...143,976,734
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PLK4 |
polo like kinase 4 |
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IAGP |
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HPO |
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ORPHA:808 |
NCBI chr 4:127,880,893...127,899,224
Ensembl chr 4:127,880,893...127,899,224
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POLR1B |
RNA polymerase I subunit B |
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IAGP |
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HPO |
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ORPHA:861 |
NCBI chr 2:112,542,036...112,579,818
Ensembl chr 2:112,541,915...112,579,818
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POLR1C |
RNA polymerase I and III subunit C |
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IAGP |
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HPO |
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ORPHA:861 |
NCBI chr 6:43,517,089...43,562,407
Ensembl chr 6:43,509,702...43,562,419
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POLR1D |
RNA polymerase I and III subunit D |
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IAGP |
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HPO |
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ORPHA:861 |
NCBI chr13:27,620,743...27,667,411
Ensembl chr13:27,620,742...27,744,237
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PORCN |
porcupine O-acyltransferase |
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IAGP |
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HPO |
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ORPHA:2092 |
NCBI chr X:48,508,992...48,520,814
Ensembl chr X:48,508,959...48,520,814
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PTDSS1 |
phosphatidylserine synthase 1 |
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IAGP |
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HPO |
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ORPHA:2658 |
NCBI chr 8:96,261,902...96,336,995
Ensembl chr 8:96,261,902...96,336,995
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RBBP8 |
RB binding protein 8, endonuclease |
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IAGP |
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HPO |
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ORPHA:808 |
NCBI chr18:22,914,139...23,026,486
Ensembl chr18:22,798,261...23,026,488
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RECQL4 |
RecQ like helicase 4 |
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IAGP |
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HPO |
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ORPHA:221016 |
NCBI chr 8:144,511,288...144,517,833
Ensembl chr 8:144,511,288...144,517,845
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RFC2 |
replication factor C subunit 2 |
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IAGP |
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HPO |
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ORPHA:904 |
NCBI chr 7:74,231,502...74,254,399
Ensembl chr 7:74,231,499...74,254,458
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RNU12 |
RNA, U12 small nuclear |
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IAGP |
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HPO |
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ORPHA:85199 |
NCBI chr22:42,615,244...42,615,393
Ensembl chr22:42,615,244...42,615,393
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ROGDI |
rogdi atypical leucine zipper |
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IAGP |
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HPO |
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ORPHA:1946 |
NCBI chr16:4,796,968...4,802,633
Ensembl chr16:4,796,968...4,802,880
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RREB1 |
ras responsive element binding protein 1 |
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IAGP |
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HPO |
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ORPHA:567 |
NCBI chr 6:7,107,743...7,251,980
Ensembl chr 6:7,107,597...7,251,980
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RUNX2 |
RUNX family transcription factor 2 |
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IAGP |
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HPO |
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ORPHA:1452 |
NCBI chr 6:45,328,330...45,551,082
Ensembl chr 6:45,328,157...45,664,349
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SEC24C |
SEC24 homolog C, COPII coat complex component |
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IAGP |
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HPO |
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ORPHA:567 |
NCBI chr10:73,744,372...73,772,161
Ensembl chr10:73,744,372...73,772,161
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SEC24D |
SEC24 homolog D, COPII coat complex component |
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IAGP |
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HPO |
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ORPHA:2050 |
NCBI chr 4:118,722,823...118,836,126
Ensembl chr 4:118,722,823...118,838,683
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SLC13A5 |
solute carrier family 13 member 5 |
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IAGP |
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HPO |
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ORPHA:1946 |
NCBI chr17:6,684,719...6,713,369
Ensembl chr17:6,684,719...6,713,377
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SLC29A3 |
solute carrier family 29 member 3 |
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IAGP |
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HPO |
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ORPHA:1782 |
NCBI chr10:71,319,259...71,381,423
Ensembl chr10:71,319,259...71,381,423
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STX1A |
syntaxin 1A |
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IAGP |
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HPO |
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ORPHA:904 |
NCBI chr 7:73,699,210...73,719,669
Ensembl chr 7:73,699,206...73,719,672
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TBCE |
tubulin folding cofactor E |
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IAGP |
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HPO |
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ORPHA:2323 |
NCBI chr 1:235,367,427...235,452,443
Ensembl chr 1:235,367,360...235,452,443
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TBL2 |
transducin beta like 2 |
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IAGP |
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HPO |
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ORPHA:904 |
NCBI chr 7:73,567,537...73,578,579
Ensembl chr 7:73,567,537...73,578,791
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TBX1 |
T-box transcription factor 1 |
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IAGP |
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HPO |
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ORPHA:567 |
NCBI chr22:19,756,703...19,783,593
Ensembl chr22:19,756,703...19,783,593
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TCIRG1 |
T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 |
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IAGP |
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HPO |
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ORPHA:1782 |
NCBI chr11:68,039,025...68,053,762
Ensembl chr11:68,039,025...68,050,895
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TCOF1 |
treacle ribosome biogenesis factor 1 |
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IAGP |
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HPO |
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ORPHA:861 |
NCBI chr 5:150,357,697...150,400,293
Ensembl chr 5:150,357,629...150,400,308
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TMEM270 |
transmembrane protein 270 |
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IAGP |
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HPO |
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ORPHA:904 |
NCBI chr 7:73,860,848...73,865,890
Ensembl chr 7:73,861,159...73,865,890
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TNFRSF11A |
TNF receptor superfamily member 11a |
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IAGP |
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HPO |
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ORPHA:1782 |
NCBI chr18:62,325,310...62,391,288
Ensembl chr18:62,325,287...62,391,288
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G |
TP63 |
tumor protein p63 |
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IAGP |
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HPO |
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ORPHA:1896 |
NCBI chr 3:189,596,746...189,897,276
Ensembl chr 3:189,631,389...189,897,276
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G |
TRAF3IP2 |
TRAF3 interacting protein 2 |
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IAGP |
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HPO |
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ORPHA:1334 |
NCBI chr 6:111,555,381...111,605,878
Ensembl chr 6:111,555,381...111,606,906
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TRAIP |
TRAF interacting protein |
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IAGP |
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HPO |
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ORPHA:808 |
NCBI chr 3:49,828,601...49,856,564
Ensembl chr 3:49,828,601...49,856,574
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G |
UFD1 |
ubiquitin recognition factor in ER associated degradation 1 |
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IAGP |
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HPO |
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ORPHA:567 |
NCBI chr22:19,449,911...19,479,193
Ensembl chr22:19,449,911...19,479,202
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USH1C |
USH1 protein network component harmonin |
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IAGP |
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HPO |
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ORPHA:231169 |
NCBI chr11:17,493,900...17,544,416
Ensembl chr11:17,493,895...17,544,416
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USH1G |
USH1 protein network component sans |
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IAGP |
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HPO |
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ORPHA:231169 |
NCBI chr17:74,916,083...74,923,255
Ensembl chr17:74,916,083...74,923,256
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USH2A |
usherin |
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IAGP |
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HPO |
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ORPHA:231178 |
NCBI chr 1:215,622,891...216,423,448
Ensembl chr 1:215,622,891...216,423,448
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G |
VPS37D |
VPS37D subunit of ESCRT-I |
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IAGP |
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HPO |
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ORPHA:904 |
NCBI chr 7:73,665,347...73,672,110
Ensembl chr 7:73,667,831...73,672,112
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G |
WDR19 |
WD repeat domain 19 |
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IAGP |
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HPO |
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ORPHA:1515 |
NCBI chr 4:39,182,529...39,285,810
Ensembl chr 4:39,182,504...39,285,810
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G |
WDR35 |
WD repeat domain 35 |
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IAGP |
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HPO |
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ORPHA:1515 |
NCBI chr 2:19,910,263...19,990,105
Ensembl chr 2:19,910,263...19,990,105
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G |
WHRN |
whirlin |
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IAGP |
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HPO |
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ORPHA:231178 |
NCBI chr 9:114,402,080...114,505,473
Ensembl chr 9:114,402,078...114,505,473
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AAGAB |
alpha and gamma adaptin binding protein |
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IAGP |
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HPO |
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MIM:148600 |
NCBI chr15:67,200,667...67,255,198
Ensembl chr15:67,200,667...67,255,195
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G |
ADAMTS10 |
ADAM metallopeptidase with thrombospondin type 1 motif 10 |
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IAGP |
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HPO |
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MIM:277600 |
NCBI chr19:8,580,240...8,610,715
Ensembl chr19:8,580,240...8,610,735
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G |
ADAMTS3 |
ADAM metallopeptidase with thrombospondin type 1 motif 3 |
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IAGP |
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HPO |
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ORPHA:2136 |
NCBI chr 4:72,280,969...72,569,221
Ensembl chr 4:72,280,969...72,569,221
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G |
ANTXR2 |
ANTXR cell adhesion molecule 2 |
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IAGP |
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HPO |
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ORPHA:2176 |
NCBI chr 4:79,901,146...80,073,472
Ensembl chr 4:79,901,146...80,125,454
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G |
AXIN2 |
axin 2 |
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IAGP |
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HPO |
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ORPHA:99798 |
NCBI chr17:65,528,563...65,561,648
Ensembl chr17:65,528,563...65,561,648
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G |
BAZ1B |
bromodomain adjacent to zinc finger domain 1B |
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IAGP |
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HPO |
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ORPHA:904 |
NCBI chr 7:73,440,406...73,522,293
Ensembl chr 7:73,440,406...73,522,293
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G |
BCOR |
BCL6 corepressor |
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IAGP |
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HPO |
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ORPHA:568 |
NCBI chr X:40,051,246...40,177,329
Ensembl chr X:40,049,815...40,177,329
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G |
BUD23 |
BUD23 rRNA methyltransferase and ribosome maturation factor |
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IAGP |
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HPO |
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ORPHA:904 |
NCBI chr 7:73,683,597...73,698,212
Ensembl chr 7:73,683,597...73,698,212
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CCBE1 |
collagen and calcium binding EGF domains 1 |
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IAGP |
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HPO |
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ORPHA:2136 |
NCBI chr18:59,430,939...59,697,721
Ensembl chr18:59,430,939...59,697,662
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CDH3 |
cadherin 3 |
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IAGP |
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HPO |
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MIM:601553 ORPHA:1897 |
NCBI chr16:68,645,310...68,733,771
Ensembl chr16:68,636,189...68,727,468
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G |
CKAP2L |
cytoskeleton associated protein 2 like |
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IAGP |
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HPO |
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MIM:272440 |
NCBI chr 2:112,736,349...112,764,609
Ensembl chr 2:112,736,349...112,764,664
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CLCN7 |
chloride voltage-gated channel 7 |
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IAGP |
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HPO |
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ORPHA:210110 |
NCBI chr16:1,444,935...1,475,028
Ensembl chr16:1,444,934...1,475,077
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G |
CLIP2 |
CAP-Gly domain containing linker protein 2 |
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IAGP |
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HPO |
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ORPHA:904 |
NCBI chr 7:74,289,407...74,405,935
Ensembl chr 7:74,289,407...74,405,935
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G |
CSTB |
cystatin B |
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IAGP |
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HPO |
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ORPHA:248 |
NCBI chr21:43,773,950...43,776,308
Ensembl chr21:43,772,511...43,776,330
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DHCR7 |
7-dehydrocholesterol reductase |
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IAGP |
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HPO |
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ORPHA:818 |
NCBI chr11:71,427,287...71,449,043
Ensembl chr11:71,428,193...71,452,868
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G |
DNAJC30 |
DnaJ heat shock protein family (Hsp40) member C30 |
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IAGP |
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HPO |
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ORPHA:904 |
NCBI chr 7:73,680,918...73,683,453
Ensembl chr 7:73,680,918...73,683,453
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G |
EDA |
ectodysplasin A |
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IAGP |
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HPO |
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ORPHA:99798 |
NCBI chr X:69,616,113...70,039,472
Ensembl chr X:69,616,067...70,039,472
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G |
EDAR |
ectodysplasin A receptor |
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IAGP |
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HPO |
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ORPHA:1810 ORPHA:248 |
NCBI chr 2:108,894,471...108,989,220
Ensembl chr 2:108,894,471...108,989,372
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G |
EDARADD |
EDAR associated via death domain |
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IAGP |
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HPO |
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ORPHA:1810 ORPHA:248 ORPHA:99798 |
NCBI chr 1:236,348,259...236,484,930
Ensembl chr 1:236,348,257...236,502,915
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G |
EIF4H |
eukaryotic translation initiation factor 4H |
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IAGP |
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HPO |
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ORPHA:904 |
NCBI chr 7:74,174,356...74,197,096
Ensembl chr 7:74,174,231...74,197,122
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ELN |
elastin |
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IAGP |
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HPO |
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ORPHA:904 |
NCBI chr 7:74,028,173...74,069,907
Ensembl chr 7:74,027,789...74,069,907
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G |
FAT4 |
FAT atypical cadherin 4 |
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IAGP |
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HPO |
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ORPHA:2136 |
NCBI chr 4:125,314,955...125,492,932
Ensembl chr 4:125,314,918...125,492,932
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FBN1 |
fibrillin 1 |
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IAGP |
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HPO |
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MIM:608328 |
NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721
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FGFR1 |
fibroblast growth factor receptor 1 |
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IAGP |
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HPO |
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ORPHA:99798 |
NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834
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G |
FKBP6 |
FKBP prolyl isomerase family member 6 (inactive) |
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IAGP |
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HPO |
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ORPHA:904 |
NCBI chr 7:73,328,161...73,358,625
Ensembl chr 7:73,328,161...73,358,637
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G |
GTF2I |
general transcription factor IIi |
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IAGP |
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HPO |
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ORPHA:904 |
NCBI chr 7:74,657,718...74,760,692
Ensembl chr 7:74,650,231...74,760,692
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G |
GTF2IRD1 |
GTF2I repeat domain containing 1 |
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IAGP |
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HPO |
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ORPHA:904 |
NCBI chr 7:74,453,906...74,602,605
Ensembl chr 7:74,453,790...74,602,605
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G |
GTF2IRD2 |
GTF2I repeat domain containing 2 |
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IAGP |
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HPO |
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ORPHA:904 |
NCBI chr 7:74,796,151...74,851,605
Ensembl chr 7:74,796,151...74,851,605
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G |
HRAS |
HRas proto-oncogene, GTPase |
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IAGP |
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HPO |
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MIM:163200 |
NCBI chr11:532,242...535,576
Ensembl chr11:532,242...537,321
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G |
IDS |
iduronate 2-sulfatase |
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IAGP |
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HPO |
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ORPHA:217085 ORPHA:217093 |
NCBI chr X:149,476,988...149,505,306
Ensembl chr X:149,476,988...149,521,096
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G |
IKBKG |
inhibitor of nuclear factor kappa B kinase regulatory subunit gamma |
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IAGP |
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HPO |
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ORPHA:464 |
NCBI chr X:154,541,238...154,565,046
Ensembl chr X:154,541,199...154,565,046
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G |
IRF6 |
interferon regulatory factor 6 |
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IAGP |
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HPO |
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ORPHA:99798 |
NCBI chr 1:209,785,617...209,806,142
Ensembl chr 1:209,785,617...209,806,175
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G |
KANSL1 |
KAT8 regulatory NSL complex subunit 1 |
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IAGP |
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HPO |
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ORPHA:363958 ORPHA:363965 |
NCBI chr17:46,029,916...46,225,367
Ensembl chr17:46,029,916...46,225,389
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G |
KDF1 |
keratinocyte differentiation factor 1 |
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IAGP |
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HPO |
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ORPHA:1810 |
NCBI chr 1:26,949,562...26,960,468
Ensembl chr 1:26,949,562...26,960,468
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G |
KDM6A |
lysine demethylase 6A |
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IAGP |
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HPO |
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ORPHA:2322 |
NCBI chr X:44,873,188...45,112,779
Ensembl chr X:44,873,188...45,112,779
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G |
KMT2D |
lysine methyltransferase 2D |
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IAGP |
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HPO |
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ORPHA:2322 |
NCBI chr12:49,018,978...49,060,794
Ensembl chr12:49,018,975...49,060,794
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G |
KRAS |
KRAS proto-oncogene, GTPase |
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IAGP |
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HPO |
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MIM:163200 |
NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936
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G |
KRT14 |
keratin 14 |
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IAGP |
|
HPO |
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ORPHA:69087 |
NCBI chr17:41,582,279...41,586,895
Ensembl chr17:41,582,279...41,586,895
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G |
KRT71 |
keratin 71 |
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IAGP |
|
HPO |
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MIM:615896 |
NCBI chr12:52,543,909...52,553,145
Ensembl chr12:52,543,909...52,553,145
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G |
LIMK1 |
LIM domain kinase 1 |
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IAGP |
|
HPO |
|
ORPHA:904 |
NCBI chr 7:74,083,804...74,122,525
Ensembl chr 7:74,082,933...74,122,525
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G |
LONP1 |
lon peptidase 1, mitochondrial |
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IAGP |
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HPO |
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ORPHA:1458 |
NCBI chr19:5,691,834...5,720,452
Ensembl chr19:5,691,834...5,720,572
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LRP6 |
LDL receptor related protein 6 |
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IAGP |
|
HPO |
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ORPHA:99798 |
NCBI chr12:12,116,025...12,267,044
Ensembl chr12:12,116,025...12,267,044
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METTL27 |
methyltransferase like 27 |
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IAGP |
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HPO |
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ORPHA:904 |
NCBI chr 7:73,834,590...73,842,516
Ensembl chr 7:73,834,590...73,842,516
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G |
MSX1 |
msh homeobox 1 |
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IAGP |
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HPO |
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ORPHA:2228 ORPHA:99798 |
NCBI chr 4:4,859,665...4,863,936
Ensembl chr 4:4,859,665...4,863,936
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NAA10 |
N-alpha-acetyltransferase 10, NatA catalytic subunit |
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IAGP |
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HPO |
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ORPHA:568 |
NCBI chr X:153,929,225...153,935,037
Ensembl chr X:153,929,225...153,935,080
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NCF1 |
neutrophil cytosolic factor 1 |
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IAGP |
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HPO |
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ORPHA:904 |
NCBI chr 7:74,774,011...74,789,315
Ensembl chr 7:74,774,011...74,789,315
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NECTIN1 |
nectin cell adhesion molecule 1 |
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IAGP |
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HPO |
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ORPHA:3253 |
NCBI chr11:119,638,098...119,729,200
Ensembl chr11:119,623,408...119,729,200
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NRAS |
NRAS proto-oncogene, GTPase |
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IAGP |
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HPO |
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MIM:163200 |
NCBI chr 1:114,704,469...114,716,771
Ensembl chr 1:114,704,469...114,716,771
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G |
PAX9 |
paired box 9 |
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IAGP |
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HPO |
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ORPHA:99798 |
NCBI chr14:36,657,568...36,679,362
Ensembl chr14:36,657,568...36,679,362
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PIGL |
phosphatidylinositol glycan anchor biosynthesis class L |
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IAGP |
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HPO |
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ORPHA:3474 |
NCBI chr17:16,217,210...16,326,411
Ensembl chr17:16,217,191...16,351,797
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PKP1 |
plakophilin 1 |
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IAGP |
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HPO |
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ORPHA:158668 |
NCBI chr 1:201,283,506...201,332,989
Ensembl chr 1:201,283,452...201,332,993
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PLEKHM1 |
pleckstrin homology and RUN domain containing M1 |
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IAGP |
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HPO |
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ORPHA:210110 |
NCBI chr17:45,434,209...45,490,721
Ensembl chr17:45,435,900...45,490,758
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POLR1B |
RNA polymerase I subunit B |
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IAGP |
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HPO |
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ORPHA:861 |
NCBI chr 2:112,542,036...112,579,818
Ensembl chr 2:112,541,915...112,579,818
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POLR1C |
RNA polymerase I and III subunit C |
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IAGP |
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HPO |
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ORPHA:861 |
NCBI chr 6:43,517,089...43,562,407
Ensembl chr 6:43,509,702...43,562,419
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POLR1D |
RNA polymerase I and III subunit D |
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IAGP |
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HPO |
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ORPHA:861 |
NCBI chr13:27,620,743...27,667,411
Ensembl chr13:27,620,742...27,744,237
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PORCN |
porcupine O-acyltransferase |
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IAGP |
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HPO |
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ORPHA:2092 |
NCBI chr X:48,508,992...48,520,814
Ensembl chr X:48,508,959...48,520,814
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RAI1 |
retinoic acid induced 1 |
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IAGP |
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HPO |
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ORPHA:1713 |
NCBI chr17:17,681,458...17,811,453
Ensembl chr17:17,681,458...17,811,453
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RFC2 |
replication factor C subunit 2 |
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IAGP |
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HPO |
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ORPHA:904 |
NCBI chr 7:74,231,502...74,254,399
Ensembl chr 7:74,231,499...74,254,458
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RNU12 |
RNA, U12 small nuclear |
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IAGP |
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HPO |
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ORPHA:85199 |
NCBI chr22:42,615,244...42,615,393
Ensembl chr22:42,615,244...42,615,393
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RPS6KA3 |
ribosomal protein S6 kinase A3 |
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IAGP |
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HPO |
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ORPHA:192 |
NCBI chr X:20,149,911...20,267,097
Ensembl chr X:20,149,911...20,267,519
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SATB1 |
SATB homeobox 1 |
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IAGP |
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HPO |
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MIM:619229 |
NCBI chr 3:18,345,377...18,445,592
Ensembl chr 3:18,345,377...18,445,621
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SH3BP2 |
SH3 domain binding protein 2 |
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IAGP |
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HPO |
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ORPHA:184 |
NCBI chr 4:2,793,085...2,841,096
Ensembl chr 4:2,793,023...2,841,291
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STX1A |
syntaxin 1A |
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IAGP |
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HPO |
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ORPHA:904 |
NCBI chr 7:73,699,210...73,719,669
Ensembl chr 7:73,699,206...73,719,672
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SUMO1 |
small ubiquitin like modifier 1 |
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IAGP |
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HPO |
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ORPHA:99798 |
NCBI chr 2:202,206,171...202,238,597
Ensembl chr 2:202,206,182...202,238,599
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TBL2 |
transducin beta like 2 |
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IAGP |
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HPO |
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ORPHA:904 |
NCBI chr 7:73,567,537...73,578,579
Ensembl chr 7:73,567,537...73,578,791
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TCIRG1 |
T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 |
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IAGP |
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HPO |
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ORPHA:210110 |
NCBI chr11:68,039,025...68,053,762
Ensembl chr11:68,039,025...68,050,895
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TCOF1 |
treacle ribosome biogenesis factor 1 |
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IAGP |
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HPO |
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ORPHA:861 |
NCBI chr 5:150,357,697...150,400,293
Ensembl chr 5:150,357,629...150,400,308
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TGFA |
transforming growth factor alpha |
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IAGP |
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HPO |
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ORPHA:99798 |
NCBI chr 2:70,447,284...70,553,826
Ensembl chr 2:70,447,284...70,554,193
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TMEM270 |
transmembrane protein 270 |
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IAGP |
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HPO |
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ORPHA:904 |
NCBI chr 7:73,860,848...73,865,890
Ensembl chr 7:73,861,159...73,865,890
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TP63 |
tumor protein p63 |
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IAGP |
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HPO |
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ORPHA:978 |
NCBI chr 3:189,596,746...189,897,276
Ensembl chr 3:189,631,389...189,897,276
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TRAF6 |
TNF receptor associated factor 6 |
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IAGP |
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HPO |
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ORPHA:1810 |
NCBI chr11:36,483,769...36,510,272
Ensembl chr11:36,483,769...36,510,272
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TRPM4 |
transient receptor potential cation channel subfamily M member 4 |
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IAGP |
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HPO |
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MIM:618531 |
NCBI chr19:49,157,792...49,211,836
Ensembl chr19:49,157,741...49,211,836
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VPS37D |
VPS37D subunit of ESCRT-I |
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IAGP |
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HPO |
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ORPHA:904 |
NCBI chr 7:73,665,347...73,672,110
Ensembl chr 7:73,667,831...73,672,112
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G |
WNT10A |
Wnt family member 10A |
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IAGP |
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HPO |
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ORPHA:248 ORPHA:99798 |
NCBI chr 2:218,874,116...218,893,928
Ensembl chr 2:218,880,852...218,899,581
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G |
WNT10B |
Wnt family member 10B |
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IAGP |
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HPO |
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ORPHA:99798 |
NCBI chr12:48,965,340...48,971,735
Ensembl chr12:48,965,340...48,971,735
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G |
ZEB2 |
zinc finger E-box binding homeobox 2 |
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IAGP |
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HPO |
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ORPHA:261537 ORPHA:261552 |
NCBI chr 2:144,384,081...144,520,119
Ensembl chr 2:144,364,364...144,521,057
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G |
ZNF141 |
zinc finger protein 141 |
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IAGP |
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HPO |
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MIM:615226 |
NCBI chr 4:337,814...384,868
Ensembl chr 4:337,814...384,868
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G |
FGF3 |
fibroblast growth factor 3 |
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IAGP |
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HPO |
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ORPHA:2791 |
NCBI chr11:69,809,968...69,819,416
Ensembl chr11:69,809,968...69,819,416
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NF1 |
neurofibromin 1 |
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IAGP |
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HPO |
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ORPHA:363700 |
NCBI chr17:31,094,927...31,377,677
Ensembl chr17:31,094,927...31,382,116
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ACP4 |
acid phosphatase 4 |
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IAGP |
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HPO |
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MIM:617297 |
NCBI chr19:50,790,415...50,795,219
Ensembl chr19:50,790,415...50,795,219
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G |
AMELX |
amelogenin X-linked |
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IAGP |
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HPO |
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MIM:301200 |
NCBI chr X:11,293,413...11,309,588
Ensembl chr X:11,293,413...11,300,761
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G |
CDH11 |
cadherin 11 |
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IAGP |
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HPO |
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ORPHA:1299 |
NCBI chr16:64,943,753...65,123,744
Ensembl chr16:64,943,753...65,126,112
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G |
DSPP |
dentin sialophosphoprotein |
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IAGP |
DNA:snp, missense mutations:intron, cds:g.87612175G>A, p.P17T, p.V18P |
RGD |
PMID:11175790 |
RGD:12910984 |
NCBI chr 4:87,608,529...87,616,873
Ensembl chr 4:87,608,529...87,616,873
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G |
PHEX |
phosphate regulating endopeptidase X-linked |
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IAGP |
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HPO |
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ORPHA:89936 |
NCBI chr X:22,032,325...22,251,310
Ensembl chr X:22,032,325...22,494,713
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G |
FGF3 |
fibroblast growth factor 3 |
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IAGP |
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HPO |
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ORPHA:2791 |
NCBI chr11:69,809,968...69,819,416
Ensembl chr11:69,809,968...69,819,416
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G |
ARHGAP29 |
Rho GTPase activating protein 29 |
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IAGP |
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HPO |
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ORPHA:199306 |
NCBI chr 1:94,168,905...94,314,592
Ensembl chr 1:94,148,988...94,275,068
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G |
ARHGEF38 |
Rho guanine nucleotide exchange factor 38 |
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IAGP |
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HPO |
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ORPHA:199306 |
NCBI chr 4:105,552,620...105,682,566
Ensembl chr 4:105,552,620...105,708,093
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G |
BMP4 |
bone morphogenetic protein 4 |
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IAGP |
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HPO |
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ORPHA:199306 |
NCBI chr14:53,949,736...53,956,891
Ensembl chr14:53,949,736...53,958,761
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G |
CDH1 |
cadherin 1 |
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IAGP |
|
HPO |
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ORPHA:199306 |
NCBI chr16:68,737,292...68,835,537
Ensembl chr16:68,737,292...68,835,537
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G |
COBLL1 |
cordon-bleu WH2 repeat protein like 1 |
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IAGP |
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HPO |
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ORPHA:199306 |
NCBI chr 2:164,657,931...164,842,076
Ensembl chr 2:164,653,624...164,843,679
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G |
DLG1 |
discs large MAGUK scaffold protein 1 |
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IAGP |
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HPO |
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ORPHA:199306 |
NCBI chr 3:197,042,560...197,299,321
Ensembl chr 3:197,042,560...197,299,330
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G |
DLX4 |
distal-less homeobox 4 |
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IAGP |
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HPO |
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ORPHA:199306 |
NCBI chr17:49,968,572...49,974,959
Ensembl chr17:49,968,588...49,974,959
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G |
IRF6 |
interferon regulatory factor 6 |
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IAGP |
|
HPO |
|
ORPHA:199306 |
NCBI chr 1:209,785,617...209,806,142
Ensembl chr 1:209,785,617...209,806,175
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G |
MSX1 |
msh homeobox 1 |
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IAGP |
|
HPO |
|
ORPHA:199306 |
NCBI chr 4:4,859,665...4,863,936
Ensembl chr 4:4,859,665...4,863,936
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G |
NECTIN1 |
nectin cell adhesion molecule 1 |
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IAGP |
|
HPO |
|
ORPHA:199306 |
NCBI chr11:119,638,098...119,729,200
Ensembl chr11:119,623,408...119,729,200
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G |
PDGFRA |
platelet derived growth factor receptor alpha |
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IAGP |
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HPO |
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ORPHA:199306 |
NCBI chr 4:54,229,293...54,298,245
Ensembl chr 4:54,229,280...54,298,245
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G |
RIC1 |
RIC1 homolog, RAB6A GEF complex partner 1 |
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IAGP |
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HPO |
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ORPHA:199306 |
NCBI chr 9:5,629,107...5,778,633
Ensembl chr 9:5,629,025...5,776,557
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G |
TP63 |
tumor protein p63 |
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IAGP |
|
HPO |
|
ORPHA:199306 |
NCBI chr 3:189,596,746...189,897,276
Ensembl chr 3:189,631,389...189,897,276
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G |
MMP1 |
matrix metallopeptidase 1 |
severity no_association |
IAGP |
DNA:insertion:promoter:g.-1607insG |
RGD |
PMID:12622858 PMID:15312099 |
RGD:7207045, RGD:7207046 |
NCBI chr11:102,789,919...102,798,160
Ensembl chr11:102,789,401...102,798,160
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G |
USP9X |
ubiquitin specific peptidase 9 X-linked |
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IAGP |
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HPO |
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ORPHA:480880 |
NCBI chr X:41,085,445...41,236,579
Ensembl chr X:41,085,445...41,236,579
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G |
AXIN2 |
axin 2 |
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IAGP |
|
HPO |
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ORPHA:99798 |
NCBI chr17:65,528,563...65,561,648
Ensembl chr17:65,528,563...65,561,648
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G |
EDA |
ectodysplasin A |
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IAGP |
|
HPO |
|
ORPHA:99798 |
NCBI chr X:69,616,113...70,039,472
Ensembl chr X:69,616,067...70,039,472
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G |
EDARADD |
EDAR associated via death domain |
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IAGP |
|
HPO |
|
ORPHA:99798 |
NCBI chr 1:236,348,259...236,484,930
Ensembl chr 1:236,348,257...236,502,915
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G |
FGFR1 |
fibroblast growth factor receptor 1 |
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IAGP |
|
HPO |
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ORPHA:99798 |
NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834
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G |
IRF6 |
interferon regulatory factor 6 |
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IAGP |
|
HPO |
|
ORPHA:99798 |
NCBI chr 1:209,785,617...209,806,142
Ensembl chr 1:209,785,617...209,806,175
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G |
LRP6 |
LDL receptor related protein 6 |
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IAGP |
|
HPO |
|
ORPHA:99798 |
NCBI chr12:12,116,025...12,267,044
Ensembl chr12:12,116,025...12,267,044
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G |
MSX1 |
msh homeobox 1 |
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IAGP |
|
HPO |
|
ORPHA:99798 |
NCBI chr 4:4,859,665...4,863,936
Ensembl chr 4:4,859,665...4,863,936
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G |
PAX9 |
paired box 9 |
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IAGP |
|
HPO |
|
ORPHA:99798 |
NCBI chr14:36,657,568...36,679,362
Ensembl chr14:36,657,568...36,679,362
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G |
SMARCAL1 |
SNF2 related chromatin remodeling annealing helicase 1 |
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IAGP |
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HPO |
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ORPHA:1830 |
NCBI chr 2:216,412,484...216,483,053
Ensembl chr 2:216,412,383...216,483,053
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G |
SUMO1 |
small ubiquitin like modifier 1 |
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IAGP |
|
HPO |
|
ORPHA:99798 |
NCBI chr 2:202,206,171...202,238,597
Ensembl chr 2:202,206,182...202,238,599
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G |
TGFA |
transforming growth factor alpha |
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IAGP |
|
HPO |
|
ORPHA:99798 |
NCBI chr 2:70,447,284...70,553,826
Ensembl chr 2:70,447,284...70,554,193
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G |
WNT10A |
Wnt family member 10A |
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IAGP |
|
HPO |
|
ORPHA:99798 |
NCBI chr 2:218,874,116...218,893,928
Ensembl chr 2:218,880,852...218,899,581
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G |
WNT10B |
Wnt family member 10B |
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IAGP |
|
HPO |
|
ORPHA:99798 |
NCBI chr12:48,965,340...48,971,735
Ensembl chr12:48,965,340...48,971,735
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G |
CHSY1 |
chondroitin sulfate synthase 1 |
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IAGP |
|
HPO |
|
ORPHA:363417 |
NCBI chr15:101,175,727...101,252,048
Ensembl chr15:101,175,727...101,252,048
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G |
DOCK7 |
dedicator of cytokinesis 7 |
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IAGP |
|
HPO |
|
ORPHA:411986 |
NCBI chr 1:62,454,726...62,688,386
Ensembl chr 1:62,454,298...62,688,386
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G |
APC |
APC regulator of WNT signaling pathway |
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IAGP |
|
HPO |
|
ORPHA:261584 |
NCBI chr 5:112,707,498...112,846,239
Ensembl chr 5:112,707,518...112,846,239
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G |
AXIN2 |
axin 2 |
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IAGP |
|
HPO |
|
ORPHA:99798 |
NCBI chr17:65,528,563...65,561,648
Ensembl chr17:65,528,563...65,561,648
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G |
CHSY1 |
chondroitin sulfate synthase 1 |
|
IAGP |
|
HPO |
|
ORPHA:363417 |
NCBI chr15:101,175,727...101,252,048
Ensembl chr15:101,175,727...101,252,048
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G |
EDA |
ectodysplasin A |
|
IAGP |
|
HPO |
|
ORPHA:99798 |
NCBI chr X:69,616,113...70,039,472
Ensembl chr X:69,616,067...70,039,472
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G |
EDARADD |
EDAR associated via death domain |
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IAGP |
|
HPO |
|
ORPHA:99798 |
NCBI chr 1:236,348,259...236,484,930
Ensembl chr 1:236,348,257...236,502,915
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G |
FGF3 |
fibroblast growth factor 3 |
|
IAGP |
|
HPO |
|
ORPHA:2791 |
NCBI chr11:69,809,968...69,819,416
Ensembl chr11:69,809,968...69,819,416
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G |
FGFR1 |
fibroblast growth factor receptor 1 |
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IAGP |
|
HPO |
|
ORPHA:99798 |
NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834
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G |
IRF6 |
interferon regulatory factor 6 |
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IAGP |
|
HPO |
|
ORPHA:99798 |
NCBI chr 1:209,785,617...209,806,142
Ensembl chr 1:209,785,617...209,806,175
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G |
KDM1A |
lysine demethylase 1A |
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IAGP |
|
HPO |
|
ORPHA:477993 |
NCBI chr 1:23,019,468...23,083,689
Ensembl chr 1:23,019,443...23,083,689
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G |
LRP6 |
LDL receptor related protein 6 |
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IAGP |
|
HPO |
|
ORPHA:99798 |
NCBI chr12:12,116,025...12,267,044
Ensembl chr12:12,116,025...12,267,044
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G |
MSX1 |
msh homeobox 1 |
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IAGP |
|
HPO |
|
ORPHA:99798 |
NCBI chr 4:4,859,665...4,863,936
Ensembl chr 4:4,859,665...4,863,936
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G |
PAX9 |
paired box 9 |
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IAGP |
|
HPO |
|
ORPHA:99798 |
NCBI chr14:36,657,568...36,679,362
Ensembl chr14:36,657,568...36,679,362
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G |
SUMO1 |
small ubiquitin like modifier 1 |
|
IAGP |
|
HPO |
|
ORPHA:99798 |
NCBI chr 2:202,206,171...202,238,597
Ensembl chr 2:202,206,182...202,238,599
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G |
TGFA |
transforming growth factor alpha |
|
IAGP |
|
HPO |
|
ORPHA:99798 |
NCBI chr 2:70,447,284...70,553,826
Ensembl chr 2:70,447,284...70,554,193
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G |
WNT10A |
Wnt family member 10A |
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IAGP |
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HPO |
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ORPHA:99798 |
NCBI chr 2:218,874,116...218,893,928
Ensembl chr 2:218,880,852...218,899,581
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WNT10B |
Wnt family member 10B |
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IAGP |
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HPO |
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ORPHA:99798 |
NCBI chr12:48,965,340...48,971,735
Ensembl chr12:48,965,340...48,971,735
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ADGRV1 |
adhesion G protein-coupled receptor V1 |
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IAGP |
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HPO |
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ORPHA:231178 |
NCBI chr 5:90,558,797...91,164,437
Ensembl chr 5:90,529,344...91,164,437
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ALMS1 |
ALMS1 centrosome and basal body associated protein |
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IAGP |
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HPO |
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ORPHA:64 |
NCBI chr 2:73,385,758...73,609,919
Ensembl chr 2:73,385,758...73,625,166
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AMBN |
ameloblastin |
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IAGP |
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HPO |
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MIM:616270 |
NCBI chr 4:70,592,256...70,607,288
Ensembl chr 4:70,592,256...70,607,288
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CNNM4 |
cyclin and CBS domain divalent metal cation transport mediator 4 |
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IAGP |
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HPO |
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ORPHA:1873 |
NCBI chr 2:96,760,902...96,811,874
Ensembl chr 2:96,760,902...96,811,874
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COL17A1 |
collagen type XVII alpha 1 chain |
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IAGP |
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HPO |
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ORPHA:251393 |
NCBI chr10:104,031,286...104,085,880
Ensembl chr10:104,031,286...104,085,880
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FAM20A |
FAM20A golgi associated secretory pathway pseudokinase |
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IAGP |
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HPO |
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ORPHA:1031 |
NCBI chr17:68,535,116...68,601,367
Ensembl chr17:68,535,113...68,601,367
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HRAS |
HRas proto-oncogene, GTPase |
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IAGP |
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HPO |
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MIM:163200 |
NCBI chr11:532,242...535,576
Ensembl chr11:532,242...537,321
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ITGB4 |
integrin subunit beta 4 |
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IAGP |
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HPO |
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ORPHA:251393 |
NCBI chr17:75,721,459...75,757,818
Ensembl chr17:75,721,328...75,757,818
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KCNJ2 |
potassium inwardly rectifying channel subfamily J member 2 |
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IAGP |
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HPO |
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ORPHA:37553 |
NCBI chr17:70,169,532...70,180,044
Ensembl chr17:70,168,673...70,180,044
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KCNJ5 |
potassium inwardly rectifying channel subfamily J member 5 |
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IAGP |
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HPO |
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ORPHA:37553 |
NCBI chr11:128,891,356...128,921,163
Ensembl chr11:128,891,356...128,921,163
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KRAS |
KRAS proto-oncogene, GTPase |
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IAGP |
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HPO |
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MIM:163200 |
NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936
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MYO7A |
myosin VIIA |
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IAGP |
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HPO |
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ORPHA:231178 |
NCBI chr11:77,128,246...77,215,241
Ensembl chr11:77,128,246...77,215,241
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NRAS |
NRAS proto-oncogene, GTPase |
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IAGP |
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HPO |
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MIM:163200 |
NCBI chr 1:114,704,469...114,716,771
Ensembl chr 1:114,704,469...114,716,771
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PDZD7 |
PDZ domain containing 7 |
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IAGP |
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HPO |
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ORPHA:231178 |
NCBI chr10:101,007,679...101,031,129
Ensembl chr10:101,007,679...101,032,295
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ROGDI |
rogdi atypical leucine zipper |
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IAGP |
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HPO |
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ORPHA:1946 |
NCBI chr16:4,796,968...4,802,633
Ensembl chr16:4,796,968...4,802,880
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SLC13A5 |
solute carrier family 13 member 5 |
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IAGP |
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HPO |
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ORPHA:1946 |
NCBI chr17:6,684,719...6,713,369
Ensembl chr17:6,684,719...6,713,377
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USH2A |
usherin |
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IAGP |
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HPO |
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ORPHA:231178 |
NCBI chr 1:215,622,891...216,423,448
Ensembl chr 1:215,622,891...216,423,448
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WHRN |
whirlin |
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IAGP |
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HPO |
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ORPHA:231178 |
NCBI chr 9:114,402,080...114,505,473
Ensembl chr 9:114,402,078...114,505,473
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ARHGAP29 |
Rho GTPase activating protein 29 |
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IAGP |
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HPO |
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ORPHA:199306 |
NCBI chr 1:94,168,905...94,314,592
Ensembl chr 1:94,148,988...94,275,068
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ARHGEF38 |
Rho guanine nucleotide exchange factor 38 |
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IAGP |
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HPO |
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ORPHA:199306 |
NCBI chr 4:105,552,620...105,682,566
Ensembl chr 4:105,552,620...105,708,093
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BMP4 |
bone morphogenetic protein 4 |
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IAGP |
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HPO |
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ORPHA:199306 |
NCBI chr14:53,949,736...53,956,891
Ensembl chr14:53,949,736...53,958,761
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CDH1 |
cadherin 1 |
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IAGP |
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HPO |
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ORPHA:199306 |
NCBI chr16:68,737,292...68,835,537
Ensembl chr16:68,737,292...68,835,537
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COBLL1 |
cordon-bleu WH2 repeat protein like 1 |
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IAGP |
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HPO |
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ORPHA:199306 |
NCBI chr 2:164,657,931...164,842,076
Ensembl chr 2:164,653,624...164,843,679
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DLG1 |
discs large MAGUK scaffold protein 1 |
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IAGP |
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HPO |
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ORPHA:199306 |
NCBI chr 3:197,042,560...197,299,321
Ensembl chr 3:197,042,560...197,299,330
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DLX4 |
distal-less homeobox 4 |
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IAGP |
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HPO |
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ORPHA:199306 |
NCBI chr17:49,968,572...49,974,959
Ensembl chr17:49,968,588...49,974,959
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IRF6 |
interferon regulatory factor 6 |
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IAGP |
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HPO |
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ORPHA:199306 |
NCBI chr 1:209,785,617...209,806,142
Ensembl chr 1:209,785,617...209,806,175
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MSX1 |
msh homeobox 1 |
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IAGP |
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HPO |
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ORPHA:199306 |
NCBI chr 4:4,859,665...4,863,936
Ensembl chr 4:4,859,665...4,863,936
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NECTIN1 |
nectin cell adhesion molecule 1 |
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IAGP |
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HPO |
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ORPHA:199306 |
NCBI chr11:119,638,098...119,729,200
Ensembl chr11:119,623,408...119,729,200
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PDGFRA |
platelet derived growth factor receptor alpha |
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IAGP |
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HPO |
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ORPHA:199306 |
NCBI chr 4:54,229,293...54,298,245
Ensembl chr 4:54,229,280...54,298,245
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RIC1 |
RIC1 homolog, RAB6A GEF complex partner 1 |
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IAGP |
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HPO |
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ORPHA:199306 |
NCBI chr 9:5,629,107...5,778,633
Ensembl chr 9:5,629,025...5,776,557
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TP63 |
tumor protein p63 |
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IAGP |
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HPO |
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ORPHA:199306 |
NCBI chr 3:189,596,746...189,897,276
Ensembl chr 3:189,631,389...189,897,276
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FIG4 |
FIG4 phosphoinositide 5-phosphatase |
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IAGP |
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HPO |
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ORPHA:3472 |
NCBI chr 6:109,691,296...109,825,426
Ensembl chr 6:109,690,609...109,878,098
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VAC14 |
VAC14 component of PIKFYVE complex |
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IAGP |
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HPO |
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ORPHA:3472 |
NCBI chr16:70,687,439...70,801,158
Ensembl chr16:70,687,439...70,801,160
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B4GALT7 |
beta-1,4-galactosyltransferase 7 |
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IAGP |
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HPO |
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ORPHA:75496 |
NCBI chr 5:177,600,132...177,610,330
Ensembl chr 5:177,600,132...177,610,330
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HNRNPK |
heterogeneous nuclear ribonucleoprotein K |
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IAGP |
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HPO |
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ORPHA:352665 ORPHA:453504 |
NCBI chr 9:83,968,083...83,980,615
Ensembl chr 9:83,968,083...83,980,631
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PURA |
purine rich element binding protein A |
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IAGP |
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HPO |
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ORPHA:438216 |
NCBI chr 5:140,114,109...140,125,619
Ensembl chr 5:140,107,777...140,125,619
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WNT10A |
Wnt family member 10A |
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IAGP |
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HPO |
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MIM:150400 MIM:257980 |
NCBI chr 2:218,874,116...218,893,928
Ensembl chr 2:218,880,852...218,899,581
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ADNP |
activity dependent neuroprotector homeobox |
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IAGP |
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HPO |
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MIM:615873 ORPHA:404448 |
NCBI chr20:50,888,918...50,931,437
Ensembl chr20:50,888,916...50,931,437
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BMP4 |
bone morphogenetic protein 4 |
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IAGP |
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HPO |
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ORPHA:828 |
NCBI chr14:53,949,736...53,956,891
Ensembl chr14:53,949,736...53,958,761
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DHCR7 |
7-dehydrocholesterol reductase |
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IAGP |
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HPO |
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ORPHA:818 |
NCBI chr11:71,427,287...71,449,043
Ensembl chr11:71,428,193...71,452,868
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EVC |
EvC ciliary complex subunit 1 |
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IAGP |
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HPO |
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ORPHA:952 |
NCBI chr 4:5,711,201...5,829,057
Ensembl chr 4:5,711,201...5,814,305
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EVC2 |
EvC ciliary complex subunit 2 |
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IAGP |
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HPO |
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ORPHA:952 |
NCBI chr 4:5,529,011...5,709,548
Ensembl chr 4:5,542,772...5,709,548
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INSR |
insulin receptor |
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IAGP |
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HPO |
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MIM:262190 ORPHA:769 |
NCBI chr19:7,112,265...7,294,414
Ensembl chr19:7,112,255...7,294,414
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G |
KRT16 |
keratin 16 |
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IAGP |
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HPO |
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ORPHA:2309 |
NCBI chr17:41,609,778...41,612,767
Ensembl chr17:41,609,778...41,615,899
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KRT17 |
keratin 17 |
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IAGP |
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HPO |
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ORPHA:2309 |
NCBI chr17:41,619,442...41,624,575
Ensembl chr17:41,619,442...41,624,842
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KRT6A |
keratin 6A |
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IAGP |
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HPO |
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ORPHA:2309 |
NCBI chr12:52,487,176...52,493,257
Ensembl chr12:52,487,176...52,493,257
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KRT6B |
keratin 6B |
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IAGP |
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HPO |
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ORPHA:2309 |
NCBI chr12:52,446,651...52,452,146
Ensembl chr12:52,446,651...52,452,146
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LMNA |
lamin A/C |
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IAGP |
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HPO |
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ORPHA:2348 ORPHA:280365 |
NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,572...156,140,081
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NFIX |
nuclear factor I X |
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IAGP |
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HPO |
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MIM:614753 |
NCBI chr19:12,995,475...13,098,796
Ensembl chr19:12,995,475...13,098,796
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NSD1 |
nuclear receptor binding SET domain protein 1 |
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IAGP |
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HPO |
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MIM:117550 |
NCBI chr 5:177,131,798...177,300,213
Ensembl chr 5:177,131,830...177,300,213
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RPS6KA3 |
ribosomal protein S6 kinase A3 |
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IAGP |
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HPO |
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ORPHA:192 |
NCBI chr X:20,149,911...20,267,097
Ensembl chr X:20,149,911...20,267,519
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SPECC1L |
sperm antigen with calponin homology and coiled-coil domains 1 like |
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IAGP |
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HPO |
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ORPHA:1519 |
NCBI chr22:24,270,831...24,417,738
Ensembl chr22:24,270,817...24,417,739
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ZSWIM6 |
zinc finger SWIM-type containing 6 |
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IAGP |
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HPO |
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MIM:617865 |
NCBI chr 5:61,332,258...61,546,172
Ensembl chr 5:61,332,258...61,546,172
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DDX59 |
DEAD-box helicase 59 |
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IAGP |
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HPO |
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ORPHA:2919 |
NCBI chr 1:200,640,805...200,669,907
Ensembl chr 1:200,623,896...200,669,907
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AXIN2 |
axin 2 |
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IAGP |
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HPO |
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ORPHA:99798 |
NCBI chr17:65,528,563...65,561,648
Ensembl chr17:65,528,563...65,561,648
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EDA |
ectodysplasin A |
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IAGP |
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HPO |
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ORPHA:99798 |
NCBI chr X:69,616,113...70,039,472
Ensembl chr X:69,616,067...70,039,472
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G |
EDARADD |
EDAR associated via death domain |
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IAGP |
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HPO |
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ORPHA:99798 |
NCBI chr 1:236,348,259...236,484,930
Ensembl chr 1:236,348,257...236,502,915
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FGFR1 |
fibroblast growth factor receptor 1 |
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IAGP |
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HPO |
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ORPHA:99798 |
NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834
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G |
IRF6 |
interferon regulatory factor 6 |
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IAGP |
|
HPO |
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ORPHA:99798 |
NCBI chr 1:209,785,617...209,806,142
Ensembl chr 1:209,785,617...209,806,175
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G |
LRP6 |
LDL receptor related protein 6 |
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IAGP |
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HPO |
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ORPHA:99798 |
NCBI chr12:12,116,025...12,267,044
Ensembl chr12:12,116,025...12,267,044
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G |
MSX1 |
msh homeobox 1 |
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IAGP |
|
HPO |
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ORPHA:99798 |
NCBI chr 4:4,859,665...4,863,936
Ensembl chr 4:4,859,665...4,863,936
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G |
NEK1 |
NIMA related kinase 1 |
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IAGP |
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HPO |
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MIM:252100 ORPHA:2751 |
NCBI chr 4:169,392,809...169,612,583
Ensembl chr 4:169,369,704...169,612,632
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G |
PAX9 |
paired box 9 |
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IAGP |
|
HPO |
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ORPHA:99798 |
NCBI chr14:36,657,568...36,679,362
Ensembl chr14:36,657,568...36,679,362
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G |
SUMO1 |
small ubiquitin like modifier 1 |
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IAGP |
|
HPO |
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ORPHA:99798 |
NCBI chr 2:202,206,171...202,238,597
Ensembl chr 2:202,206,182...202,238,599
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TGFA |
transforming growth factor alpha |
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IAGP |
|
HPO |
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ORPHA:99798 |
NCBI chr 2:70,447,284...70,553,826
Ensembl chr 2:70,447,284...70,554,193
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G |
WNT10A |
Wnt family member 10A |
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IAGP |
|
HPO |
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ORPHA:99798 |
NCBI chr 2:218,874,116...218,893,928
Ensembl chr 2:218,880,852...218,899,581
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G |
WNT10B |
Wnt family member 10B |
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IAGP |
|
HPO |
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ORPHA:99798 |
NCBI chr12:48,965,340...48,971,735
Ensembl chr12:48,965,340...48,971,735
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G |
AXIN2 |
axin 2 |
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IAGP |
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HPO |
|
ORPHA:99798 |
NCBI chr17:65,528,563...65,561,648
Ensembl chr17:65,528,563...65,561,648
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G |
EDA |
ectodysplasin A |
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IAGP |
|
HPO |
|
ORPHA:99798 |
NCBI chr X:69,616,113...70,039,472
Ensembl chr X:69,616,067...70,039,472
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G |
EDARADD |
EDAR associated via death domain |
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IAGP |
|
HPO |
|
ORPHA:99798 |
NCBI chr 1:236,348,259...236,484,930
Ensembl chr 1:236,348,257...236,502,915
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G |
FGFR1 |
fibroblast growth factor receptor 1 |
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IAGP |
|
HPO |
|
ORPHA:99798 |
NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834
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G |
IRF6 |
interferon regulatory factor 6 |
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IAGP |
|
HPO |
|
ORPHA:99798 |
NCBI chr 1:209,785,617...209,806,142
Ensembl chr 1:209,785,617...209,806,175
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G |
LRP6 |
LDL receptor related protein 6 |
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IAGP |
|
HPO |
|
ORPHA:99798 |
NCBI chr12:12,116,025...12,267,044
Ensembl chr12:12,116,025...12,267,044
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G |
MSX1 |
msh homeobox 1 |
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IAGP |
|
HPO |
|
ORPHA:99798 |
NCBI chr 4:4,859,665...4,863,936
Ensembl chr 4:4,859,665...4,863,936
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G |
PAX9 |
paired box 9 |
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IAGP |
|
HPO |
|
ORPHA:99798 |
NCBI chr14:36,657,568...36,679,362
Ensembl chr14:36,657,568...36,679,362
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G |
SUMO1 |
small ubiquitin like modifier 1 |
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IAGP |
|
HPO |
|
ORPHA:99798 |
NCBI chr 2:202,206,171...202,238,597
Ensembl chr 2:202,206,182...202,238,599
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G |
TGFA |
transforming growth factor alpha |
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IAGP |
|
HPO |
|
ORPHA:99798 |
NCBI chr 2:70,447,284...70,553,826
Ensembl chr 2:70,447,284...70,554,193
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G |
WNT10A |
Wnt family member 10A |
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IAGP |
|
HPO |
|
ORPHA:99798 |
NCBI chr 2:218,874,116...218,893,928
Ensembl chr 2:218,880,852...218,899,581
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G |
WNT10B |
Wnt family member 10B |
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IAGP |
|
HPO |
|
ORPHA:99798 |
NCBI chr12:48,965,340...48,971,735
Ensembl chr12:48,965,340...48,971,735
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G |
CDC42BPB |
CDC42 binding protein kinase beta |
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IAGP |
|
HPO |
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MIM:619841 |
NCBI chr14:102,932,380...103,057,549
Ensembl chr14:102,932,380...103,057,549
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G |
CDH11 |
cadherin 11 |
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IAGP |
|
HPO |
|
MIM:211380 |
NCBI chr16:64,943,753...65,123,744
Ensembl chr16:64,943,753...65,126,112
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G |
DLX3 |
distal-less homeobox 3 |
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IAGP |
|
HPO |
|
ORPHA:3352 |
NCBI chr17:49,990,005...49,995,224
Ensembl chr17:49,990,005...49,995,224
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G |
GLI2 |
GLI family zinc finger 2 |
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IAGP |
|
HPO |
|
MIM:610829 |
NCBI chr 2:120,735,868...120,992,653
Ensembl chr 2:120,735,623...120,992,653
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G |
ARHGAP29 |
Rho GTPase activating protein 29 |
|
IAGP |
|
HPO |
|
ORPHA:199306 |
NCBI chr 1:94,168,905...94,314,592
Ensembl chr 1:94,148,988...94,275,068
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G |
ARHGEF38 |
Rho guanine nucleotide exchange factor 38 |
|
IAGP |
|
HPO |
|
ORPHA:199306 |
NCBI chr 4:105,552,620...105,682,566
Ensembl chr 4:105,552,620...105,708,093
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G |
BMP4 |
bone morphogenetic protein 4 |
|
IAGP |
|
HPO |
|
ORPHA:199306 |
NCBI chr14:53,949,736...53,956,891
Ensembl chr14:53,949,736...53,958,761
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G |
CDH1 |
cadherin 1 |
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IAGP |
|
HPO |
|
ORPHA:199306 |
NCBI chr16:68,737,292...68,835,537
Ensembl chr16:68,737,292...68,835,537
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G |
COBLL1 |
cordon-bleu WH2 repeat protein like 1 |
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IAGP |
|
HPO |
|
ORPHA:199306 |
NCBI chr 2:164,657,931...164,842,076
Ensembl chr 2:164,653,624...164,843,679
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G |
DLG1 |
discs large MAGUK scaffold protein 1 |
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IAGP |
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HPO |
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ORPHA:199306 |
NCBI chr 3:197,042,560...197,299,321
Ensembl chr 3:197,042,560...197,299,330
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G |
DLX4 |
distal-less homeobox 4 |
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IAGP |
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HPO |
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MIM:616788 ORPHA:199306 |
NCBI chr17:49,968,572...49,974,959
Ensembl chr17:49,968,588...49,974,959
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G |
EDA |
ectodysplasin A |
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IAGP |
|
HPO |
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MIM:313500 |
NCBI chr X:69,616,113...70,039,472
Ensembl chr X:69,616,067...70,039,472
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G |
IRF6 |
interferon regulatory factor 6 |
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IAGP |
|
HPO |
|
ORPHA:199306 |
NCBI chr 1:209,785,617...209,806,142
Ensembl chr 1:209,785,617...209,806,175
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G |
MSX1 |
msh homeobox 1 |
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IAGP |
|
HPO |
|
ORPHA:199306 |
NCBI chr 4:4,859,665...4,863,936
Ensembl chr 4:4,859,665...4,863,936
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G |
NECTIN1 |
nectin cell adhesion molecule 1 |
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IAGP |
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HPO |
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ORPHA:199306 |
NCBI chr11:119,638,098...119,729,200
Ensembl chr11:119,623,408...119,729,200
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G |
PDGFRA |
platelet derived growth factor receptor alpha |
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IAGP |
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HPO |
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ORPHA:199306 |
NCBI chr 4:54,229,293...54,298,245
Ensembl chr 4:54,229,280...54,298,245
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G |
RIC1 |
RIC1 homolog, RAB6A GEF complex partner 1 |
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IAGP |
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HPO |
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ORPHA:199306 |
NCBI chr 9:5,629,107...5,778,633
Ensembl chr 9:5,629,025...5,776,557
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G |
TP63 |
tumor protein p63 |
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IAGP |
|
HPO |
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ORPHA:199306 |
NCBI chr 3:189,596,746...189,897,276
Ensembl chr 3:189,631,389...189,897,276
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G |
EIF4A3 |
eukaryotic translation initiation factor 4A3 |
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IAGP |
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HPO |
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MIM:268305 |
NCBI chr17:80,134,369...80,147,128
Ensembl chr17:80,134,369...80,147,151
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G |
OFD1 |
OFD1 centriole and centriolar satellite protein |
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IAGP |
DNA:deletion:exon:c.2183delG (human) |
RGD |
PMID:21729220 |
RGD:11535960 |
NCBI chr X:13,714,505...13,773,738
Ensembl chr X:13,734,743...13,777,955
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G |
AXIN2 |
axin 2 |
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IAGP |
|
HPO |
|
ORPHA:99798 |
NCBI chr17:65,528,563...65,561,648
Ensembl chr17:65,528,563...65,561,648
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G |
EDA |
ectodysplasin A |
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IAGP |
|
HPO |
|
ORPHA:99798 |
NCBI chr X:69,616,113...70,039,472
Ensembl chr X:69,616,067...70,039,472
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G |
EDARADD |
EDAR associated via death domain |
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IAGP |
|
HPO |
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ORPHA:99798 |
NCBI chr 1:236,348,259...236,484,930
Ensembl chr 1:236,348,257...236,502,915
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G |
FGFR1 |
fibroblast growth factor receptor 1 |
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IAGP |
|
HPO |
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ORPHA:99798 |
NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834
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G |
IRF6 |
interferon regulatory factor 6 |
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IAGP |
|
HPO |
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ORPHA:99798 |
NCBI chr 1:209,785,617...209,806,142
Ensembl chr 1:209,785,617...209,806,175
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G |
LRP6 |
LDL receptor related protein 6 |
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IAGP |
|
HPO |
|
ORPHA:99798 |
NCBI chr12:12,116,025...12,267,044
Ensembl chr12:12,116,025...12,267,044
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G |
MSX1 |
msh homeobox 1 |
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IAGP |
|
HPO |
|
ORPHA:99798 |
NCBI chr 4:4,859,665...4,863,936
Ensembl chr 4:4,859,665...4,863,936
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G |
PAX9 |
paired box 9 |
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IAGP |
|
HPO |
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ORPHA:99798 |
NCBI chr14:36,657,568...36,679,362
Ensembl chr14:36,657,568...36,679,362
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G |
SUMO1 |
small ubiquitin like modifier 1 |
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IAGP |
|
HPO |
|
ORPHA:99798 |
NCBI chr 2:202,206,171...202,238,597
Ensembl chr 2:202,206,182...202,238,599
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G |
TGFA |
transforming growth factor alpha |
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IAGP |
|
HPO |
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ORPHA:99798 |
NCBI chr 2:70,447,284...70,553,826
Ensembl chr 2:70,447,284...70,554,193
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G |
WNT10A |
Wnt family member 10A |
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IAGP |
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HPO |
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ORPHA:99798 |
NCBI chr 2:218,874,116...218,893,928
Ensembl chr 2:218,880,852...218,899,581
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G |
WNT10B |
Wnt family member 10B |
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IAGP |
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HPO |
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ORPHA:99798 |
NCBI chr12:48,965,340...48,971,735
Ensembl chr12:48,965,340...48,971,735
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G |
ADAMTS15 |
ADAM metallopeptidase with thrombospondin type 1 motif 15 |
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IAGP |
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HPO |
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MIM:620545 |
NCBI chr11:130,448,645...130,476,645
Ensembl chr11:130,448,645...130,476,645
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G |
RIPK4 |
receptor interacting serine/threonine kinase 4 |
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IAGP |
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HPO |
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ORPHA:1401 |
NCBI chr21:41,739,373...41,767,052
Ensembl chr21:41,739,369...41,767,089
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G |
AXIN2 |
axin 2 |
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IAGP |
|
HPO |
|
ORPHA:99798 |
NCBI chr17:65,528,563...65,561,648
Ensembl chr17:65,528,563...65,561,648
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G |
B3GLCT |
beta 3-glucosyltransferase |
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IAGP |
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HPO |
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MIM:261540 |
NCBI chr13:31,199,975...31,332,276
Ensembl chr13:31,199,975...31,332,276
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G |
BCOR |
BCL6 corepressor |
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IAGP |
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HPO |
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MIM:309800 |
NCBI chr X:40,051,246...40,177,329
Ensembl chr X:40,049,815...40,177,329
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G |
BLM |
BLM RecQ like helicase |
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IAGP |
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HPO |
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MIM:210900 |
NCBI chr15:90,717,346...90,816,166
Ensembl chr15:90,717,346...90,816,166
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G |
EDA |
ectodysplasin A |
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IAGP |
|
HPO |
|
ORPHA:99798 |
NCBI chr X:69,616,113...70,039,472
Ensembl chr X:69,616,067...70,039,472
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G |
EDARADD |
EDAR associated via death domain |
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IAGP |
|
HPO |
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ORPHA:99798 |
NCBI chr 1:236,348,259...236,484,930
Ensembl chr 1:236,348,257...236,502,915
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G |
ERCC3 |
ERCC excision repair 3, TFIIH core complex helicase subunit |
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IAGP |
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HPO |
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MIM:616390 |
NCBI chr 2:127,257,290...127,294,144
Ensembl chr 2:127,257,290...127,294,166
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G |
FGFR1 |
fibroblast growth factor receptor 1 |
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IAGP |
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HPO |
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ORPHA:99798 |
NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834
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G |
IRF6 |
interferon regulatory factor 6 |
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IAGP |
|
HPO |
|
ORPHA:99798 |
NCBI chr 1:209,785,617...209,806,142
Ensembl chr 1:209,785,617...209,806,175
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G |
LRP6 |
LDL receptor related protein 6 |
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IAGP |
|
HPO |
|
ORPHA:99798 |
NCBI chr12:12,116,025...12,267,044
Ensembl chr12:12,116,025...12,267,044
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G |
MSX1 |
msh homeobox 1 |
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IAGP |
|
HPO |
|
ORPHA:99798 |
NCBI chr 4:4,859,665...4,863,936
Ensembl chr 4:4,859,665...4,863,936
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G |
MYO15A |
myosin XVA |
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IAGP |
ClinVar Annotator: match by term: Missing upper lateral incisor |
ClinVar |
PMID:24033266 PMID:25741868 PMID:26445815 PMID:27375115 PMID:28492532 |
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NCBI chr17:18,108,756...18,179,800
Ensembl chr17:18,108,756...18,179,802
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G |
NAA10 |
N-alpha-acetyltransferase 10, NatA catalytic subunit |
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IAGP |
|
HPO |
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MIM:309800 |
NCBI chr X:153,929,225...153,935,037
Ensembl chr X:153,929,225...153,935,080
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G |
PAX9 |
paired box 9 |
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IAGP |
|
HPO |
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ORPHA:99798 |
NCBI chr14:36,657,568...36,679,362
Ensembl chr14:36,657,568...36,679,362
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G |
PGAP3 |
post-GPI attachment to proteins phospholipase 3 |
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IAGP |
ClinVar Annotator: match by term: Missing upper lateral incisor |
ClinVar |
PMID:25741868 PMID:30345601 |
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NCBI chr17:39,671,122...39,688,057
Ensembl chr17:39,671,122...39,696,797
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G |
SUMO1 |
small ubiquitin like modifier 1 |
|
IAGP |
|
HPO |
|
ORPHA:99798 |
NCBI chr 2:202,206,171...202,238,597
Ensembl chr 2:202,206,182...202,238,599
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G |
TGFA |
transforming growth factor alpha |
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IAGP |
|
HPO |
|
ORPHA:99798 |
NCBI chr 2:70,447,284...70,553,826
Ensembl chr 2:70,447,284...70,554,193
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G |
WNT10A |
Wnt family member 10A |
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IAGP |
|
HPO |
|
ORPHA:99798 |
NCBI chr 2:218,874,116...218,893,928
Ensembl chr 2:218,880,852...218,899,581
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G |
WNT10B |
Wnt family member 10B |
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IAGP |
|
HPO |
|
ORPHA:99798 |
NCBI chr12:48,965,340...48,971,735
Ensembl chr12:48,965,340...48,971,735
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G |
EDA |
ectodysplasin A |
|
IAGP |
|
HPO |
|
MIM:313500 |
NCBI chr X:69,616,113...70,039,472
Ensembl chr X:69,616,067...70,039,472
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G |
TCF12 |
transcription factor 12 |
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IAGP |
|
HPO |
|
MIM:619718 |
NCBI chr15:56,918,090...57,291,310
Ensembl chr15:56,918,623...57,299,281
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G |
PAX9 |
paired box 9 |
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IAGP |
|
HPO |
|
MIM:604625 |
NCBI chr14:36,657,568...36,679,362
Ensembl chr14:36,657,568...36,679,362
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G |
APC2 |
APC regulator of WNT signaling pathway 2 |
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IAGP |
|
HPO |
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ORPHA:821 |
NCBI chr19:1,446,230...1,473,244
Ensembl chr19:1,446,302...1,473,244
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G |
C1R |
complement C1r |
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IAGP |
|
HPO |
|
ORPHA:75392 |
NCBI chr12:7,080,219...7,092,445
Ensembl chr12:7,080,214...7,092,540
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G |
C1S |
complement C1s |
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IAGP |
|
HPO |
|
ORPHA:75392 |
NCBI chr12:7,060,718...7,071,032
Ensembl chr12:6,988,259...7,071,032
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G |
CREBBP |
CREB binding protein |
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IAGP |
|
HPO |
|
MIM:618332 |
NCBI chr16:3,725,054...3,880,713
Ensembl chr16:3,725,054...3,880,713
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G |
DVL3 |
dishevelled segment polarity protein 3 |
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IAGP |
|
HPO |
|
MIM:616894 |
NCBI chr 3:184,155,377...184,173,614
Ensembl chr 3:184,155,377...184,173,614
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G |
EP300 |
E1A binding protein p300 |
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IAGP |
|
HPO |
|
MIM:618333 |
NCBI chr22:41,092,592...41,180,077
Ensembl chr22:41,092,510...41,180,077
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G |
GNB2 |
G protein subunit beta 2 |
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IAGP |
|
HPO |
|
MIM:619503 |
NCBI chr 7:100,673,740...100,679,169
Ensembl chr 7:100,673,567...100,679,174
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G |
KCTD1 |
potassium channel tetramerization domain containing 1 |
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IAGP |
|
HPO |
|
MIM:181270 |
NCBI chr18:26,454,910...26,657,473
Ensembl chr18:26,454,910...26,657,401
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G |
LRP6 |
LDL receptor related protein 6 |
|
IAGP |
|
HPO |
|
MIM:616724 |
NCBI chr12:12,116,025...12,267,044
Ensembl chr12:12,116,025...12,267,044
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G |
MESD |
mesoderm development LRP chaperone |
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IAGP |
|
HPO |
|
MIM:618644 |
NCBI chr15:80,946,289...80,989,819
Ensembl chr15:80,946,289...80,989,828
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G |
MSX1 |
msh homeobox 1 |
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IAGP |
|
HPO |
|
MIM:189500 ORPHA:2228 |
NCBI chr 4:4,859,665...4,863,936
Ensembl chr 4:4,859,665...4,863,936
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G |
NSD1 |
nuclear receptor binding SET domain protein 1 |
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IAGP |
|
HPO |
|
ORPHA:821 |
NCBI chr 5:177,131,798...177,300,213
Ensembl chr 5:177,131,830...177,300,213
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G |
OFD1 |
OFD1 centriole and centriolar satellite protein |
|
IAGP |
|
HPO |
|
MIM:311200 |
NCBI chr X:13,714,505...13,773,738
Ensembl chr X:13,734,743...13,777,955
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G |
PIGA |
phosphatidylinositol glycan anchor biosynthesis class A |
|
IAGP |
|
HPO |
|
MIM:300868 |
NCBI chr X:15,319,451...15,335,554
Ensembl chr X:15,319,452...15,335,554
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G |
RAB23 |
RAB23, member RAS oncogene family |
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IAGP |
|
HPO |
|
MIM:201000 |
NCBI chr 6:57,186,992...57,222,307
Ensembl chr 6:57,186,992...57,222,307
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G |
RAD51 |
RAD51 recombinase |
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IAGP |
|
HPO |
|
MIM:617244 |
NCBI chr15:40,694,733...40,732,340
Ensembl chr15:40,694,774...40,732,340
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G |
RECQL4 |
RecQ like helicase 4 |
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IAGP |
|
HPO |
|
MIM:268400 |
NCBI chr 8:144,511,288...144,517,833
Ensembl chr 8:144,511,288...144,517,845
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G |
RIPK4 |
receptor interacting serine/threonine kinase 4 |
|
IAGP |
|
HPO |
|
ORPHA:1401 |
NCBI chr21:41,739,373...41,767,052
Ensembl chr21:41,739,369...41,767,089
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G |
SATB2 |
SATB homeobox 2 |
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IAGP |
|
HPO |
|
ORPHA:251028 |
NCBI chr 2:199,269,500...199,471,266
Ensembl chr 2:199,269,505...199,471,266
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G |
SBDS |
SBDS ribosome maturation factor |
|
IAGP |
ClinVar Annotator: match by term: Agenesis of permanent teeth |
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:27418648 PMID:32150944 PMID:32581362 PMID:33607811 PMID:33871916 PMID:34625797 PMID:34758064 PMID:36835434 More...
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NCBI chr 7:66,987,680...66,995,586
Ensembl chr 7:66,987,680...66,995,693
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G |
TFAP2B |
transcription factor AP-2 beta |
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IAGP |
|
HPO |
|
ORPHA:46627 |
NCBI chr 6:50,818,355...50,847,619
Ensembl chr 6:50,818,723...50,847,619
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G |
UBR1 |
ubiquitin protein ligase E3 component n-recognin 1 |
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IAGP |
|
HPO |
|
MIM:243800 |
NCBI chr15:42,942,897...43,106,038
Ensembl chr15:42,942,897...43,106,113
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G |
WDR35 |
WD repeat domain 35 |
|
IAGP |
|
HPO |
|
MIM:614091 |
NCBI chr 2:19,910,263...19,990,105
Ensembl chr 2:19,910,263...19,990,105
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G |
WNT10A |
Wnt family member 10A |
|
IAGP |
|
HPO |
|
MIM:150400 MIM:257980 |
NCBI chr 2:218,874,116...218,893,928
Ensembl chr 2:218,880,852...218,899,581
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G |
AXIN2 |
axin 2 |
|
IAGP |
|
HPO |
|
ORPHA:99798 |
NCBI chr17:65,528,563...65,561,648
Ensembl chr17:65,528,563...65,561,648
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|
G |
EDA |
ectodysplasin A |
|
IAGP |
|
HPO |
|
MIM:313500 ORPHA:99798 |
NCBI chr X:69,616,113...70,039,472
Ensembl chr X:69,616,067...70,039,472
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|
G |
EDARADD |
EDAR associated via death domain |
|
IAGP |
|
HPO |
|
ORPHA:99798 |
NCBI chr 1:236,348,259...236,484,930
Ensembl chr 1:236,348,257...236,502,915
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|
G |
FGF3 |
fibroblast growth factor 3 |
|
IAGP |
|
HPO |
|
ORPHA:2791 |
NCBI chr11:69,809,968...69,819,416
Ensembl chr11:69,809,968...69,819,416
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|
G |
FGFR1 |
fibroblast growth factor receptor 1 |
|
IAGP |
|
HPO |
|
ORPHA:99798 |
NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834
|
|
G |
IRF6 |
interferon regulatory factor 6 |
|
IAGP |
|
HPO |
|
ORPHA:99798 |
NCBI chr 1:209,785,617...209,806,142
Ensembl chr 1:209,785,617...209,806,175
|
|
G |
LRP6 |
LDL receptor related protein 6 |
|
IAGP |
|
HPO |
|
ORPHA:99798 |
NCBI chr12:12,116,025...12,267,044
Ensembl chr12:12,116,025...12,267,044
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|
G |
MSX1 |
msh homeobox 1 |
|
IAGP |
|
HPO |
|
ORPHA:99798 |
NCBI chr 4:4,859,665...4,863,936
Ensembl chr 4:4,859,665...4,863,936
|
|
G |
PAX9 |
paired box 9 |
|
IAGP |
|
HPO |
|
ORPHA:99798 |
NCBI chr14:36,657,568...36,679,362
Ensembl chr14:36,657,568...36,679,362
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|
G |
SUMO1 |
small ubiquitin like modifier 1 |
|
IAGP |
|
HPO |
|
ORPHA:99798 |
NCBI chr 2:202,206,171...202,238,597
Ensembl chr 2:202,206,182...202,238,599
|
|
G |
TGFA |
transforming growth factor alpha |
|
IAGP |
|
HPO |
|
ORPHA:99798 |
NCBI chr 2:70,447,284...70,553,826
Ensembl chr 2:70,447,284...70,554,193
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G |
WNT10A |
Wnt family member 10A |
|
IAGP |
|
HPO |
|
ORPHA:99798 |
NCBI chr 2:218,874,116...218,893,928
Ensembl chr 2:218,880,852...218,899,581
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G |
WNT10B |
Wnt family member 10B |
|
IAGP |
|
HPO |
|
ORPHA:99798 |
NCBI chr12:48,965,340...48,971,735
Ensembl chr12:48,965,340...48,971,735
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G |
C1R |
complement C1r |
|
IAGP |
|
HPO |
|
MIM:130080 |
NCBI chr12:7,080,219...7,092,445
Ensembl chr12:7,080,214...7,092,540
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G |
ACP4 |
acid phosphatase 4 |
|
IAGP |
ClinVar Annotator: match by term: Amelogenesis imperfecta |
ClinVar HPO |
PMID:27843125 |
MIM:617297 |
NCBI chr19:50,790,415...50,795,219
Ensembl chr19:50,790,415...50,795,219
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AMBN |
ameloblastin |
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IAGP |
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HPO |
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MIM:616270 |
NCBI chr 4:70,592,256...70,607,288
Ensembl chr 4:70,592,256...70,607,288
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AMELX |
amelogenin X-linked |
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IAGP |
ClinVar Annotator: match by term: Amelogenesis imperfecta |
ClinVar HPO |
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MIM:301200 |
NCBI chr X:11,293,413...11,309,588
Ensembl chr X:11,293,413...11,300,761
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AMTN |
amelotin |
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IAGP |
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HPO |
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MIM:617607 |
NCBI chr 4:70,518,569...70,532,743
Ensembl chr 4:70,518,569...70,532,743
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G |
ARHGAP6 |
Rho GTPase activating protein 6 |
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IAGP |
ClinVar Annotator: match by term: Amelogenesis imperfecta |
ClinVar |
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NCBI chr X:11,137,544...11,665,920
Ensembl chr X:11,117,651...11,665,920
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BNC2 |
basonuclin zinc finger protein 2 |
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IAGP |
ClinVar Annotator: match by term: Amelogenesis imperfecta |
ClinVar |
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NCBI chr 9:16,409,503...16,870,670
Ensembl chr 9:16,409,503...16,870,843
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G |
BNC2-AS1 |
BNC2 antisense RNA 1 |
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IAGP |
ClinVar Annotator: match by term: Amelogenesis imperfecta |
ClinVar |
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NCBI chr 9:16,726,814...16,727,524
Ensembl chr 9:16,726,804...16,727,551
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G |
CHCHD2 |
coiled-coil-helix-coiled-coil-helix domain containing 2 |
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IAGP |
ClinVar Annotator: match by term: Amelogenesis imperfecta |
ClinVar |
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NCBI chr 7:56,101,573...56,106,476
Ensembl chr 7:56,094,567...56,106,479
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G |
CLDN16 |
claudin 16 |
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IAGP |
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HPO |
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MIM:248250 |
NCBI chr 3:190,290,361...190,412,138
Ensembl chr 3:190,322,541...190,412,138
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CLDN19 |
claudin 19 |
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IAGP |
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HPO |
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MIM:248190 |
NCBI chr 1:42,733,093...42,740,236
Ensembl chr 1:42,733,093...42,740,254
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G |
CNNM4 |
cyclin and CBS domain divalent metal cation transport mediator 4 |
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IAGP |
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HPO |
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ORPHA:1873 |
NCBI chr 2:96,760,902...96,811,874
Ensembl chr 2:96,760,902...96,811,874
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COL17A1 |
collagen type XVII alpha 1 chain |
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IAGP |
ClinVar Annotator: match by term: Amelogenesis imperfecta |
ClinVar |
PMID:25741868 |
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NCBI chr10:104,031,286...104,085,880
Ensembl chr10:104,031,286...104,085,880
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G |
DLX3 |
distal-less homeobox 3 |
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IAGP |
ClinVar Annotator: match by term: Amelogenesis imperfecta |
ClinVar HPO |
PMID:25741868 |
MIM:104510 |
NCBI chr17:49,990,005...49,995,224
Ensembl chr17:49,990,005...49,995,224
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DNAJC21 |
DnaJ heat shock protein family (Hsp40) member C21 |
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IAGP |
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HPO |
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MIM:617052 |
NCBI chr 5:34,929,559...34,958,964
Ensembl chr 5:34,929,559...34,958,964
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ENAM |
enamelin |
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IAGP |
ClinVar Annotator: match by term: Amelogenesis imperfecta |
ClinVar HPO |
PMID:25741868 PMID:28492532 |
MIM:104500 MIM:204650 |
NCBI chr 4:70,628,744...70,646,824
Ensembl chr 4:70,628,744...70,646,824
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G |
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