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G |
Abca4 |
ATP binding cassette subfamily A member 4 |
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ISO |
ClinVar Annotator: match by term: Abnormality of the eye |
ClinVar |
PMID:9054934 PMID:11017087 PMID:11527935 PMID:19265867 PMID:22264887 PMID:24265693 PMID:25741868 PMID:28118664 PMID:28492532 PMID:28559085 PMID:29925512 PMID:30204727 PMID:30576320 PMID:31456290 PMID:31964843 PMID:32307445 PMID:32531858 PMID:32619608 PMID:32845050 PMID:33546218 PMID:35076026 PMID:35119454 PMID:35260635 PMID:36460718 PMID:36672815 More...
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NCBI chr 2:212,849,470...212,986,730
Ensembl chr 2:210,164,813...210,302,069
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G |
Abcc6 |
ATP binding cassette subfamily C member 6 |
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ISO |
ClinVar Annotator: match by term: Abnormality of the eye |
ClinVar |
PMID:11536079 PMID:12673275 PMID:14631379 PMID:15086542 PMID:17617515 PMID:18347285 PMID:25741868 PMID:28041643 PMID:28492532 PMID:31164056 PMID:32873932 More...
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NCBI chr 1:105,583,681...105,637,895
Ensembl chr 1:96,447,251...96,501,464
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G |
Ahi1 |
Abelson helper integration site 1 |
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ISO |
ClinVar Annotator: match by term: Abnormality of the eye |
ClinVar |
PMID:28041643 |
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NCBI chr 1:17,580,859...17,711,775
Ensembl chr 1:15,762,462...15,891,041
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G |
Aipl1 |
aryl hydrocarbon receptor-interacting protein-like 1 |
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ISO |
ClinVar Annotator: match by term: Abnormality of the eye |
ClinVar |
PMID:25741868 |
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NCBI chr10:57,154,226...57,163,455
Ensembl chr10:56,655,693...56,664,922
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G |
Alms1 |
ALMS1, centrosome and basal body associated protein |
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ISO |
ClinVar Annotator: match by term: Abnormality of the eye |
ClinVar |
PMID:25741868 |
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NCBI chr 4:119,683,085...119,783,471
Ensembl chr 4:118,125,607...118,226,005
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G |
Apaf1 |
apoptotic peptidase activating factor 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9753320 |
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NCBI chr 7:27,381,392...27,466,772
Ensembl chr 7:25,494,609...25,579,540
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G |
Apc |
APC regulator of WNT signaling pathway |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16938888 |
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NCBI chr18:26,138,382...26,196,021
Ensembl chr18:25,864,222...25,922,696
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G |
Arl6 |
ARF like GTPase 6 |
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ISO |
ClinVar Annotator: match by term: Abnormality of the eye |
ClinVar |
PMID:25741868 |
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NCBI chr11:40,711,878...40,738,254
Ensembl chr11:40,712,022...40,737,937
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G |
Bbs9 |
Bardet-Biedl syndrome 9 |
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ISO |
ClinVar Annotator: match by term: Abnormality of the eye |
ClinVar |
PMID:16380913 PMID:20177705 PMID:24746959 PMID:25741868 PMID:27708425 PMID:28492532 More...
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NCBI chr 8:29,288,846...29,713,889
Ensembl chr 8:21,013,944...21,437,930
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G |
Bmpr1a |
bone morphogenetic protein receptor type 1A |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15804571 |
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NCBI chr16:9,740,751...9,786,861
Ensembl chr16:9,736,630...9,780,616
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G |
Bmpr1b |
bone morphogenetic protein receptor type 1B |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15804571 |
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NCBI chr 2:230,538,252...230,871,077
Ensembl chr 2:230,541,558...230,871,368
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G |
Cacna1f |
calcium voltage-gated channel subunit alpha1 F |
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ISO |
ClinVar Annotator: match by term: Abnormality of the eye |
ClinVar |
PMID:25741868 PMID:28041643 |
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NCBI chr X:17,539,992...17,568,308
Ensembl chr X:14,868,024...14,896,413
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G |
Cacna2d4 |
calcium voltage-gated channel auxiliary subunit alpha2delta 4 |
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ISO |
ClinVar Annotator: match by term: Abnormality of the eye |
ClinVar |
PMID:17033974 PMID:24033266 PMID:26560832 PMID:28041643 PMID:28492532 |
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NCBI chr 4:154,080,877...154,197,369
Ensembl chr 4:152,408,657...152,521,268
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G |
Chm |
CHM Rab escort protein |
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ISO |
ClinVar Annotator: match by term: Abnormality of the eye |
ClinVar |
PMID:28041643 |
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NCBI chr X:82,395,463...82,554,249
Ensembl chr X:78,203,204...78,361,943
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G |
Cnga3 |
cyclic nucleotide gated channel subunit alpha 3 |
|
ISO |
ClinVar Annotator: match by term: Abnormality of the eye |
ClinVar |
PMID:11536077 PMID:14757870 PMID:15743887 PMID:17693388 PMID:18445228 PMID:23972307 PMID:24033266 PMID:24903488 PMID:25637600 PMID:25741868 PMID:27624628 PMID:28041643 PMID:28341476 PMID:28492532 PMID:28559085 PMID:30418171 PMID:30653986 PMID:30682209 PMID:31589614 PMID:31964843 PMID:32531858 PMID:32581362 PMID:34426522 PMID:34449556 PMID:35052368 PMID:35119454 PMID:35260635 PMID:35456423 PMID:36980963 More...
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NCBI chr 9:46,943,353...46,989,862
Ensembl chr 9:39,448,034...39,493,183
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G |
Cngb3 |
cyclic nucleotide gated channel subunit beta 3 |
|
ISO |
ClinVar Annotator: match by term: Abnormality of the eye |
ClinVar |
PMID:1347967 PMID:10888875 PMID:10958649 PMID:12815043 PMID:14757870 PMID:15161866 PMID:15657609 PMID:15712225 PMID:16379026 PMID:17265047 PMID:19592100 PMID:20079539 PMID:22975760 PMID:22995991 PMID:23805033 PMID:24033266 PMID:24504161 PMID:25326637 PMID:25741868 PMID:25770143 PMID:26990548 PMID:27535533 PMID:27884173 PMID:28041643 PMID:28341476 PMID:28418496 PMID:28492532 PMID:28746191 PMID:28795510 PMID:28929832 PMID:29053603 PMID:29769798 PMID:30190494 PMID:30337596 PMID:30418171 PMID:30544257 PMID:30609409 PMID:30718709 PMID:31429209 PMID:31456290 PMID:31816670 PMID:31964843 PMID:31980526 PMID:32036094 PMID:32037395 PMID:32531858 PMID:32581362 PMID:32860008 PMID:32869108 PMID:33546218 PMID:33562422 PMID:33737949 PMID:33749171 PMID:33851411 PMID:34426522 PMID:34449556 PMID:34758253 PMID:35119454 PMID:35260635 PMID:35456422 PMID:36259723 PMID:36460718 PMID:36672815 PMID:36909829 PMID:37734845 More...
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NCBI chr 5:37,543,903...37,792,030
Ensembl chr 5:32,746,988...32,995,121
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G |
Col4a1 |
collagen type IV alpha 1 chain |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20385946 |
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NCBI chr16:84,885,597...84,996,482
Ensembl chr16:78,183,533...78,294,412
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G |
Col5a2 |
collagen type V alpha 2 chain |
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ISO |
DNA:splicing error |
RGD |
PMID:16431952 |
RGD:1600694 |
NCBI chr 9:54,940,768...55,090,151
Ensembl chr 9:47,448,736...47,598,154
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G |
Cpamd8 |
C3 and PZP-like, alpha-2-macroglobulin domain containing 8 |
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ISO |
ClinVar Annotator: match by term: Abnormal anterior eye segment morphology |
ClinVar |
PMID:25741868 |
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NCBI chr 4:155,332,827...155,413,098
Ensembl chr 4:155,332,827...155,413,117
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G |
Crb1 |
crumbs cell polarity complex component 1 |
|
ISO |
ClinVar Annotator: match by term: Abnormality of the eye |
ClinVar |
PMID:25741868 PMID:30820146 PMID:38374194 |
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NCBI chr13:53,352,932...53,540,019
Ensembl chr13:50,800,959...50,989,261
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G |
Crppa |
CDP-L-ribitol pyrophosphorylase A |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22522421 |
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NCBI chr 6:58,847,550...59,124,309
Ensembl chr 6:53,121,438...53,397,028
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G |
Cryaa |
crystallin, alpha A |
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ISO |
ClinVar Annotator: match by term: Abnormality of the eye |
ClinVar |
PMID:17724170 PMID:19503744 PMID:22045060 PMID:22140512 PMID:22347476 PMID:23508780 PMID:25741868 PMID:28492532 More...
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NCBI chr20:9,784,872...9,788,656
Ensembl chr20:9,783,605...9,787,349
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G |
Frem1 |
Fras1 related extracellular matrix 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23221805 |
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NCBI chr 5:97,321,266...97,469,523
Ensembl chr 5:97,322,538...97,469,543
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G |
Fyco1 |
FYVE and coiled-coil domain autophagy adaptor 1 |
|
ISO |
ClinVar Annotator: match by term: Abnormality of the eye |
ClinVar |
PMID:25741868 |
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NCBI chr 8:132,289,538...132,356,810
Ensembl chr 8:123,412,112...123,479,021
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G |
Gnat2 |
G protein subunit alpha transducin 2 |
|
ISO |
ClinVar Annotator: match by term: Abnormality of the eye |
ClinVar |
PMID:28041643 |
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NCBI chr 2:195,726,371...195,735,866
Ensembl chr 2:195,726,762...195,735,866
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G |
Gphn |
gephyrin |
|
ISO |
ClinVar Annotator: match by term: Abnormality of the eye |
ClinVar |
PMID:15258582 PMID:15322982 PMID:16269441 PMID:17389517 PMID:17512964 PMID:20301475 PMID:20683928 PMID:22065924 PMID:23847139 PMID:25741868 PMID:26047050 PMID:26103963 PMID:26667666 PMID:28041643 PMID:28492532 PMID:30372751 More...
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NCBI chr 6:102,687,405...103,216,679
Ensembl chr 6:96,892,148...97,483,612
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G |
Ift122 |
intraflagellar transport 122 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20493458 |
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NCBI chr 4:148,905,031...148,975,458
Ensembl chr 4:148,905,046...148,975,458
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G |
Impg2 |
interphotoreceptor matrix proteoglycan 2 |
|
ISO |
ClinVar Annotator: match by term: Abnormality of the eye |
ClinVar |
PMID:20673862 PMID:28041643 |
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NCBI chr11:44,318,836...44,418,382
Ensembl chr11:44,318,836...44,418,382
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G |
Jag1 |
jagged canonical Notch ligand 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9207787 PMID:9207788 PMID:12022040 |
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NCBI chr 3:144,859,453...144,894,883
Ensembl chr 3:124,406,794...124,442,209
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G |
Lrat |
lecithin retinol acyltransferase |
|
ISO |
ClinVar Annotator: match by term: Abnormality of the eye |
ClinVar |
PMID:25741868 |
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NCBI chr 2:170,562,148...170,571,212
Ensembl chr 2:168,266,877...168,273,619
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G |
Ndst1 |
N-deacetylase and N-sulfotransferase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16020517 |
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NCBI chr18:56,407,308...56,470,007
Ensembl chr18:54,140,779...54,178,191
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G |
Nr2e3 |
nuclear receptor subfamily 2, group E, member 3 |
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ISO |
ClinVar Annotator: match by term: Abnormality of the eye |
ClinVar |
PMID:19006237 PMID:25079116 PMID:25741868 PMID:26894784 PMID:27033713 PMID:28041643 PMID:28492532 PMID:28559085 PMID:31884612 PMID:32581362 PMID:32679203 More...
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NCBI chr 8:69,261,343...69,269,081
Ensembl chr 8:60,366,124...60,373,163
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G |
Nyx |
nyctalopin |
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ISO |
ClinVar Annotator: match by term: Abnormality of the eye |
ClinVar |
PMID:28041643 |
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NCBI chr X:9,280,864...9,301,900
Ensembl chr X:9,280,864...9,301,900
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G |
Pax6 |
paired box 6 |
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ISO IDA |
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RGD |
PMID:12721955 PMID:10441571 PMID:9247338 |
RGD:1601211, RGD:1601210, RGD:731242 |
NCBI chr 3:112,590,034...112,611,771
Ensembl chr 3:92,135,637...92,157,014
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G |
Pde6c |
phosphodiesterase 6C |
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ISO |
ClinVar Annotator: match by term: Abnormality of the eye |
ClinVar |
PMID:25741868 |
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NCBI chr 1:235,909,583...235,965,435
Ensembl chr 1:235,909,775...235,965,315
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G |
Rbp4 |
retinol binding protein 4 |
|
ISO |
ClinVar Annotator: match by term: Abnormality of the eye |
ClinVar |
PMID:28041643 |
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NCBI chr 1:245,306,349...245,313,551
Ensembl chr 1:235,893,917...235,901,399
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G |
Rd3 |
RD3 regulator of GUCY2D |
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ISO |
ClinVar Annotator: match by term: Abnormality of the eye |
ClinVar |
PMID:23308101 PMID:25741868 PMID:28492532 PMID:31964843 PMID:32083505 PMID:32531858 PMID:34426522 PMID:36460718 More...
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NCBI chr13:103,551,823...103,562,925
Ensembl chr13:103,552,857...103,562,622
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G |
Rdh12 |
retinol dehydrogenase 12 |
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ISO |
ClinVar Annotator: match by term: Abnormality of the eye |
ClinVar |
PMID:15258582 PMID:15322982 PMID:16269441 PMID:17389517 PMID:17512964 PMID:20301475 PMID:20683928 PMID:22065924 PMID:23847139 PMID:25741868 PMID:26047050 PMID:26103963 PMID:26667666 PMID:28041643 PMID:28492532 PMID:30372751 More...
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NCBI chr 6:98,015,465...98,028,388
Ensembl chr 6:98,015,465...98,028,388
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G |
Rlbp1 |
retinaldehyde binding protein 1 |
|
ISO |
ClinVar Annotator: match by term: Abnormality of the eye |
ClinVar |
PMID:25326637 PMID:25741868 PMID:26355662 PMID:28492532 PMID:32188692 PMID:32552793 PMID:34426522 More...
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NCBI chr 1:142,718,262...142,731,621
Ensembl chr 1:133,308,938...133,322,296
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G |
Rp2 |
RP2 activator of ARL3 GTPase |
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ISO |
ClinVar Annotator: match by term: Abnormality of the eye |
ClinVar |
PMID:28041643 |
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NCBI chr X:4,426,071...4,470,200
Ensembl chr X:1,873,306...1,916,688
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G |
Rpe65 |
retinoid isomerohydrolase RPE65 |
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ISO |
ClinVar Annotator: match by term: Abnormality of the eye |
ClinVar |
PMID:9501220 PMID:10766140 PMID:10937591 PMID:11095629 PMID:16518657 PMID:16754667 PMID:17525851 PMID:17933883 PMID:18682808 PMID:19117922 PMID:19431183 PMID:19854499 PMID:21153841 PMID:25257057 PMID:25741868 PMID:25752820 PMID:26427430 PMID:26626312 PMID:27874104 PMID:28492532 PMID:30268864 PMID:30718709 PMID:31054281 PMID:31273949 PMID:31816670 PMID:31925606 PMID:31964843 PMID:32579692 PMID:34374989 PMID:34830511 PMID:36460718 More...
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NCBI chr 2:251,425,228...251,457,209
Ensembl chr 2:248,766,612...248,798,403
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G |
Rpgrip1 |
RPGR interacting protein 1 |
|
ISO |
ClinVar Annotator: match by term: Abnormality of the eye |
ClinVar |
PMID:24123792 PMID:26047050 PMID:27422788 PMID:28041643 PMID:28492532 PMID:32581362 PMID:36819107 More...
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NCBI chr15:27,282,997...27,341,021
Ensembl chr15:24,814,614...24,868,605
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G |
Sh3pxd2b |
SH3 and PX domains 2B |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19669234 |
|
NCBI chr10:16,918,611...17,027,499
Ensembl chr10:16,918,679...17,005,170
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G |
Shh |
sonic hedgehog signaling molecule |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24973920 |
|
NCBI chr 4:7,687,872...7,697,025
Ensembl chr 4:6,954,017...6,963,170
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G |
Sox2 |
SRY-box transcription factor 2 |
|
ISO |
DNA:mutations: :multiple DNA:missense mutation: :p.D123G (human) |
RGD |
PMID:19921648 PMID:19471311 |
RGD:8661660, RGD:8661661 |
NCBI chr 2:119,465,131...119,467,542
Ensembl chr 2:117,536,929...117,539,338
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G |
Tfap2a |
transcription factor AP-2 alpha |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19685247 |
|
NCBI chr17:24,230,064...24,253,219
Ensembl chr17:24,024,432...24,047,507
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G |
Tgfb2 |
transforming growth factor, beta 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9217007 |
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NCBI chr13:100,691,540...100,793,227
Ensembl chr13:98,160,087...98,261,405
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G |
Tgfbr2 |
transforming growth factor, beta receptor 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16885183 |
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NCBI chr 8:124,672,677...124,761,741
Ensembl chr 8:115,794,537...115,883,228
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G |
Trpm6 |
transient receptor potential cation channel, subfamily M, member 6 |
|
ISO |
ClinVar Annotator: match by term: Abnormality of the eye |
ClinVar |
PMID:28041643 PMID:32581362 |
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NCBI chr 1:225,559,528...225,747,106
Ensembl chr 1:216,170,038...216,320,520
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G |
Tulp1 |
TUB like protein 1 |
|
ISO |
ClinVar Annotator: match by term: Abnormality of the eye |
ClinVar |
PMID:8606774 PMID:10549638 PMID:15024725 PMID:18055821 PMID:18936139 PMID:23105016 PMID:25342276 PMID:25741868 PMID:26355662 PMID:28492532 PMID:30054919 More...
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NCBI chr20:6,413,901...6,425,833
Ensembl chr20:6,412,171...6,424,073
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G |
Tyr |
tyrosinase |
|
ISO |
ClinVar Annotator: match by term: Abnormality of the eye |
ClinVar |
PMID:8026428 PMID:16098056 PMID:25216246 PMID:25741868 PMID:28041643 PMID:28266639 PMID:28492532 PMID:31077556 PMID:33800529 More...
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NCBI chr 1:150,527,687...150,622,857
Ensembl chr 1:141,115,036...141,210,207
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G |
Vps13b |
vacuolar protein sorting 13 homolog B |
|
ISO |
ClinVar Annotator: match by term: Abnormality of the eye |
ClinVar |
PMID:15141358 PMID:16648375 PMID:20461111 PMID:25741868 PMID:26395554 PMID:28041643 PMID:28492532 PMID:29149870 More...
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NCBI chr 7:68,436,996...69,013,574
Ensembl chr 7:66,558,471...67,128,429
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G |
Vsx1 |
visual system homeobox 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15051220 |
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NCBI chr 3:159,974,693...159,982,292
Ensembl chr 3:139,514,270...139,521,869
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G |
Zfyve26 |
zinc finger FYVE-type containing 26 |
|
ISO |
ClinVar Annotator: match by term: Abnormality of the eye |
ClinVar |
PMID:15258582 PMID:15322982 PMID:16269441 PMID:17389517 PMID:17512964 PMID:20301475 PMID:20683928 PMID:22065924 PMID:23847139 PMID:25741868 PMID:26047050 PMID:26103963 PMID:26667666 PMID:28041643 PMID:28492532 PMID:30372751 More...
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NCBI chr 6:103,764,864...103,828,520
Ensembl chr 6:98,032,520...98,095,480
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G |
Adipoq |
adiponectin, C1Q and collagen domain containing |
|
ISO |
ClinVar Annotator: match by term: 3MC syndrome 1 |
ClinVar |
PMID:28492532 PMID:29407414 |
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NCBI chr11:91,226,524...91,240,244
Ensembl chr11:77,721,912...77,735,564
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G |
Ahsg |
alpha-2-HS-glycoprotein |
|
ISO |
ClinVar Annotator: match by term: 3MC syndrome 1 |
ClinVar |
PMID:28492532 PMID:29407414 |
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NCBI chr11:91,625,975...91,632,583
Ensembl chr11:78,117,918...78,145,999
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G |
Colec11 |
collectin sub-family member 11 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21258343 |
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NCBI chr 6:50,952,357...50,984,845
Ensembl chr 6:45,223,980...45,271,145
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G |
Crygs |
crystallin, gamma S |
|
ISO |
ClinVar Annotator: match by term: 3MC syndrome 1 |
ClinVar |
PMID:28492532 PMID:29407414 |
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NCBI chr11:78,207,170...78,212,273
Ensembl chr11:78,207,170...78,212,273
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G |
Dnajb11 |
DnaJ heat shock protein family (Hsp40) member B11 |
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ISO |
ClinVar Annotator: match by term: 3MC syndrome 1 |
ClinVar |
PMID:28492532 PMID:29407414 |
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NCBI chr11:91,656,334...91,672,800
Ensembl chr11:78,150,429...78,180,407
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G |
Eif4a2 |
eukaryotic translation initiation factor 4A2 |
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ISO |
ClinVar Annotator: match by term: 3MC syndrome 1 |
ClinVar |
PMID:28492532 PMID:29407414 |
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NCBI chr11:91,268,730...91,276,738
Ensembl chr11:77,764,124...77,770,781
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G |
Fetub |
fetuin B |
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ISO |
ClinVar Annotator: match by term: 3MC syndrome 1 |
ClinVar |
PMID:28492532 PMID:29407414 |
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NCBI chr11:78,082,158...78,093,022
Ensembl chr11:78,082,156...78,095,135
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G |
Hrg |
histidine-rich glycoprotein |
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ISO |
ClinVar Annotator: match by term: 3MC syndrome 1 |
ClinVar |
PMID:28492532 PMID:29407414 |
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NCBI chr11:91,559,087...91,573,982
Ensembl chr11:78,054,498...78,069,389
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G |
Kng1 |
kininogen 1 |
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ISO |
ClinVar Annotator: match by term: 3MC syndrome 1 |
ClinVar |
PMID:28492532 PMID:29407414 |
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NCBI chr11:91,317,354...91,340,148
Ensembl chr11:77,812,752...77,835,555
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G |
Masp1 |
MBL associated serine protease 1 |
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ISO |
ClinVar Annotator: match by term: 3MC syndrome 1 | ClinVar Annotator: match by term: Craniosynostosis with lid anomalies | ClinVar Annotator: match by term: MASP1-related condition CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:17937425 PMID:18266249 PMID:21035106 PMID:21258343 PMID:22966085 PMID:25741868 PMID:28492532 PMID:28534045 PMID:28794230 PMID:29407414 PMID:30601195 PMID:33144682 More...
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NCBI chr11:90,839,081...90,909,922
Ensembl chr11:77,334,859...77,402,974
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G |
Rfc4 |
replication factor C subunit 4 |
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ISO |
ClinVar Annotator: match by term: 3MC syndrome 1 |
ClinVar |
PMID:28492532 PMID:29407414 |
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NCBI chr11:91,254,273...91,268,727
Ensembl chr11:77,749,638...77,764,122
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G |
Rpl39l1 |
ribosomal protein L39 like 1 |
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ISO |
ClinVar Annotator: match by term: 3MC syndrome 1 |
ClinVar |
PMID:28492532 PMID:29407414 |
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NCBI chr10:5,455,712...5,459,828
Ensembl chr10:5,454,559...5,462,029
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G |
Rtp1 |
receptor (chemosensory) transporter protein 1 |
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ISO |
ClinVar Annotator: match by term: 3MC syndrome 1 |
ClinVar |
PMID:28492532 PMID:29407414 |
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NCBI chr11:77,422,982...77,425,498
Ensembl chr11:77,422,982...77,425,498
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G |
Snora81 |
small nucleolar RNA, H/ACA box 81 |
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ISO |
ClinVar Annotator: match by term: 3MC syndrome 1 |
ClinVar |
PMID:28492532 PMID:29407414 |
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NCBI chr11:77,767,579...77,767,756
Ensembl chr10:27,777,322...27,777,469
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G |
St6gal1 |
ST6 beta-galactoside alpha-2,6-sialyltransferase 1 |
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ISO |
ClinVar Annotator: match by term: 3MC syndrome 1 |
ClinVar |
PMID:28492532 PMID:29407414 |
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NCBI chr11:91,031,481...91,158,111
Ensembl chr11:77,526,837...77,653,310
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G |
Tbccd1 |
TBCC domain containing 1 |
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ISO |
ClinVar Annotator: match by term: 3MC syndrome 1 |
ClinVar |
PMID:28492532 PMID:29407414 |
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NCBI chr11:78,168,386...78,205,314
Ensembl chr11:78,168,388...78,205,523
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G |
Twist2 |
twist family bHLH transcription factor 2 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Ablepharon macrostomia syndrome |
OMIM CTD ClinVar |
PMID:2036354 PMID:8746822 PMID:11038439 PMID:11807864 PMID:15103726 PMID:21595001 PMID:25741868 PMID:26119818 More...
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NCBI chr 9:99,822,242...99,866,722
Ensembl chr 9:92,374,574...92,419,222
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G |
Alpk1 |
alpha-kinase 1 |
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ISO |
ClinVar Annotator: match by term: Congenital aniridia |
ClinVar |
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NCBI chr 2:218,801,425...218,924,013
Ensembl chr 2:216,128,825...216,247,157
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G |
Ank2 |
ankyrin 2 |
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ISO |
ClinVar Annotator: match by term: Congenital aniridia |
ClinVar |
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NCBI chr 2:218,052,555...218,628,414
Ensembl chr 2:215,379,680...215,862,923
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G |
Ap1ar |
adaptor-related protein complex 1 associated regulatory protein |
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ISO |
ClinVar Annotator: match by term: Congenital aniridia |
ClinVar |
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NCBI chr 2:216,276,631...216,309,020
Ensembl chr 2:216,276,631...216,309,013
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G |
Arsj |
arylsulfatase family, member J |
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ISO |
ClinVar Annotator: match by term: Congenital aniridia |
ClinVar |
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NCBI chr 2:214,774,631...214,854,614
Ensembl chr 2:214,774,654...214,854,612
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G |
Camk2d |
calcium/calmodulin-dependent protein kinase II delta |
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ISO |
ClinVar Annotator: match by term: Congenital aniridia |
ClinVar |
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NCBI chr 2:217,698,324...217,961,898
Ensembl chr 2:215,024,004...215,286,178
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G |
Dcdc1-ps1 |
doublecortin domain containing 1, pseudogene 1 |
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ISO |
ClinVar Annotator: match by term: Congenital aniridia |
ClinVar |
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NCBI chr 3:112,940,793...113,351,417
Ensembl chr 3:92,718,047...92,896,542
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G |
Dnajc24 |
DnaJ heat shock protein family (Hsp40) member C24 |
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ISO |
ClinVar Annotator: match by term: Congenital aniridia |
ClinVar |
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NCBI chr 3:112,905,369...112,940,741
Ensembl chr 3:92,450,639...92,485,901
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G |
Elp4 |
elongator acetyltransferase complex subunit 4 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Congenital aniridia |
CTD ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 3:112,617,020...112,839,963
Ensembl chr 3:92,162,280...92,385,243
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G |
Fam241a |
family with sequence similarity 241 member A |
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ISO |
ClinVar Annotator: match by term: Congenital aniridia |
ClinVar |
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NCBI chr 2:216,344,563...216,375,193
Ensembl chr 2:216,343,822...216,375,242
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G |
Foxc1 |
forkhead box C1 |
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ISO |
ClinVar Annotator: match by term: Congenital aniridia |
ClinVar |
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NCBI chr17:32,840,119...32,844,100
Ensembl chr17:32,633,142...32,634,803
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G |
Glis3 |
GLIS family zinc finger 3 |
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ISO |
ClinVar Annotator: match by term: Congenital aniridia |
ClinVar |
PMID:26893459 |
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NCBI chr 1:235,389,567...235,809,416
Ensembl chr 1:225,976,326...226,395,899
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G |
Gmds |
GDP-mannose 4, 6-dehydratase |
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ISO |
ClinVar Annotator: match by term: Congenital aniridia |
ClinVar |
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NCBI chr17:32,304,029...32,830,708
Ensembl chr17:32,095,386...32,621,961
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G |
Immp1l |
inner mitochondrial membrane peptidase subunit 1 |
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ISO |
ClinVar Annotator: match by term: Congenital aniridia |
ClinVar |
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NCBI chr 3:112,840,015...112,904,297
Ensembl chr 3:92,385,379...92,452,313
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G |
Kif21a |
kinesin family member 21A |
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ISO |
ClinVar Annotator: match by term: Congenital aniridia |
ClinVar |
PMID:26893459 |
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NCBI chr 7:122,062,523...122,179,051
Ensembl chr 7:122,062,537...122,178,999
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G |
Larp7 |
La ribonucleoprotein 7, transcriptional regulator |
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ISO |
ClinVar Annotator: match by term: Congenital aniridia |
ClinVar |
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NCBI chr 2:215,997,641...216,012,833
Ensembl chr 2:215,997,649...216,012,865
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G |
Neurog2 |
neurogenin 2 |
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ISO |
ClinVar Annotator: match by term: Congenital aniridia |
ClinVar |
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NCBI chr 2:218,767,205...218,769,772
Ensembl chr 2:216,093,363...216,094,154
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Pax6 |
paired box 6 |
susceptibility |
ISO ISS |
DNA:mutations:exon, intron:multiple (human) OMIM:106210 ClinVar Annotator: match by term: Aniridia, atypical | ClinVar Annotator: match by term: Congenital aniridia CTD Direct Evidence: marker/mechanism associated with Nystagmus, Congenital;DNA:insertion:exon:c.888insA(human) DNA:frameshift mutation:cds:p.P418SfsX87 (human) associated with Cataract;DNA:nonsense mutation:cds:p.R103X (human) DNA:snps, nonsense mutation:introns, cds:IVS5a+1G>A, IVS8-1G>A, p.Q215X (mouse) DNA:deletions:cds:c.170-174delTGGGC, c.475delC (human) DNA:nonsense mutation:cds:p.R240X (human) DNA:deletion:cds:p.Q297HfsX68 (human) DNA:deletion:cds:p.R38PfsX12 (human) DNA:deletion, snp:cds:p.R38GfsX16, p.S121L (human) |
MouseDO ClinVar CTD RGD |
PMID:9931324 PMID:14744876 PMID:17417613 PMID:18322702 PMID:18776953 PMID:25741868 PMID:27013732 PMID:28492532 PMID:30221735 PMID:9138149 PMID:25366758 PMID:22550392 PMID:22393272 PMID:16080917 PMID:16303964 PMID:19862335 PMID:22815628 PMID:22171157 PMID:20664694 PMID:23734086 More...
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RGD:1601209, RGD:12790966, RGD:8552301, RGD:8552277, RGD:8552246, RGD:8551879, RGD:8551870, RGD:8551860, RGD:8551859, RGD:8551858, RGD:8551856 |
NCBI chr 3:112,590,034...112,611,771
Ensembl chr 3:92,135,637...92,157,014
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G |
Sox2 |
SRY-box transcription factor 2 |
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ISO |
ClinVar Annotator: match by term: Congenital aniridia |
ClinVar |
PMID:25741868 |
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NCBI chr 2:119,465,131...119,467,542
Ensembl chr 2:117,536,929...117,539,338
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G |
Tifa |
TRAF-interacting protein with forkhead-associated domain |
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ISO |
ClinVar Annotator: match by term: Congenital aniridia |
ClinVar |
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NCBI chr 2:218,927,724...218,942,111
Ensembl chr 2:216,234,774...216,267,841
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G |
Trim44 |
tripartite motif-containing 44 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr 3:109,048,643...109,183,821
Ensembl chr 3:88,592,719...88,729,188
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G |
Wt1 |
WT1 transcription factor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr 3:112,019,721...112,068,454
Ensembl chr 3:91,567,001...91,613,643
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G |
Zgrf1 |
zinc finger, GRF-type containing 1 |
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ISO |
ClinVar Annotator: match by term: Congenital aniridia |
ClinVar |
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NCBI chr 2:218,687,413...218,750,104
Ensembl chr 2:216,013,005...216,074,750
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G |
Dcdc1-ps1 |
doublecortin domain containing 1, pseudogene 1 |
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ISO |
ClinVar Annotator: match by term: Aniridia 1 |
ClinVar |
PMID:10737978 PMID:11284764 PMID:15150775 PMID:17630404 PMID:24138039 PMID:26661695 PMID:27124303 PMID:28231309 PMID:28492532 More...
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NCBI chr 3:112,940,793...113,351,417
Ensembl chr 3:92,718,047...92,896,542
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G |
Dnajc24 |
DnaJ heat shock protein family (Hsp40) member C24 |
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ISO |
ClinVar Annotator: match by term: Aniridia 1 |
ClinVar |
PMID:10737978 PMID:11284764 PMID:15150775 PMID:17630404 PMID:24138039 PMID:26661695 PMID:27124303 PMID:28231309 PMID:28492532 More...
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NCBI chr 3:112,905,369...112,940,741
Ensembl chr 3:92,450,639...92,485,901
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G |
Elp4 |
elongator acetyltransferase complex subunit 4 |
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ISO |
ClinVar Annotator: match by term: Aniridia 1 |
ClinVar |
PMID:8364574 PMID:10234503 PMID:10737978 PMID:11284764 PMID:11309364 PMID:11431688 PMID:12552561 PMID:12731001 PMID:15150775 PMID:16098226 PMID:17630404 PMID:18483559 PMID:19218613 PMID:22361317 PMID:24138039 PMID:24290376 PMID:25741868 PMID:26661695 PMID:27124303 PMID:27381094 PMID:27431685 PMID:28231309 PMID:28321846 PMID:28492532 PMID:29618921 PMID:30291432 More...
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NCBI chr 3:112,617,020...112,839,963
Ensembl chr 3:92,162,280...92,385,243
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G |
Immp1l |
inner mitochondrial membrane peptidase subunit 1 |
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ISO |
ClinVar Annotator: match by term: Aniridia 1 |
ClinVar |
PMID:10737978 PMID:11284764 PMID:15150775 PMID:17630404 PMID:24138039 PMID:26661695 PMID:27124303 PMID:28231309 PMID:28492532 More...
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NCBI chr 3:112,840,015...112,904,297
Ensembl chr 3:92,385,379...92,452,313
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G |
Pax6 |
paired box 6 |
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ISO |
ClinVar Annotator: match by term: Aniridia 1 | ClinVar Annotator: match by term: Cataracts, congenital, with late-onset corneal dystrophy |
OMIM ClinVar |
PMID:1251879 PMID:1302030 PMID:1345175 PMID:1684738 PMID:1954207 PMID:2080308 PMID:6988567 PMID:7550230 PMID:7666404 PMID:7951315 PMID:8111279 PMID:8111379 PMID:8364574 PMID:8640214 PMID:8689689 PMID:9138149 PMID:9279758 PMID:9281415 PMID:9452088 PMID:9482572 PMID:9536098 PMID:9727514 PMID:9792406 PMID:9931324 PMID:10234503 PMID:10477494 PMID:10694925 PMID:10737978 PMID:10887930 PMID:11284764 PMID:11309364 PMID:11431688 PMID:11479730 PMID:11553050 PMID:11826019 PMID:12015275 PMID:12388550 PMID:12552561 PMID:12634864 PMID:12721955 PMID:12731001 PMID:12782766 PMID:12868034 PMID:14561779 PMID:14744876 PMID:15020706 PMID:15086958 PMID:15150775 PMID:15579687 PMID:15846561 PMID:15889018 PMID:16098226 PMID:16199547 PMID:16493447 PMID:16617299 PMID:16712695 PMID:16785853 PMID:16803629 PMID:17148041 PMID:17406642 PMID:17417613 PMID:17568989 PMID:17576681 PMID:17595013 PMID:17630404 PMID:17893655 PMID:18241071 PMID:18332330 PMID:18414213 PMID:18483559 PMID:18776953 PMID:19218613 PMID:19862335 PMID:19876904 PMID:19898691 PMID:20054790 PMID:20577777 PMID:21397818 PMID:21423868 PMID:21848007 PMID:21850189 PMID:22171686 PMID:22361317 PMID:22393275 PMID:22509105 PMID:22692063 PMID:22893676 PMID:23404109 PMID:23517654 PMID:23734086 PMID:23761016 PMID:23942204 PMID:24138039 PMID:24266705 PMID:24281366 PMID:24390526 PMID:24623969 PMID:24737507 PMID:25678763 PMID:25741868 PMID:26535646 PMID:26604670 PMID:26661695 PMID:26694549 PMID:26849621 PMID:27013732 PMID:27081502 PMID:27081561 PMID:27124303 PMID:27307692 PMID:27381094 PMID:27431685 PMID:27455012 PMID:27463523 PMID:27878435 PMID:28018434 PMID:28231309 PMID:28321846 PMID:28488383 PMID:28492532 PMID:28559085 PMID:29145603 PMID:29217025 PMID:29618921 PMID:29780932 PMID:29914532 PMID:30167917 PMID:30291432 PMID:30315214 PMID:30986449 PMID:31161946 PMID:31700164 PMID:32080308 PMID:32214788 PMID:32360764 PMID:32467297 PMID:32857266 PMID:32860008 PMID:32883240 PMID:33169869 PMID:34101622 PMID:34174135 PMID:34415986 PMID:34942114 More...
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NCBI chr 3:112,590,034...112,611,771
Ensembl chr 3:92,135,637...92,157,014
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G |
Rcn1 |
reticulocalbin 1 |
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ISO |
ClinVar Annotator: match by term: Aniridia 1 |
ClinVar |
PMID:15150775 PMID:17630404 PMID:24138039 PMID:26661695 PMID:27124303 PMID:28492532 More...
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NCBI chr 3:112,295,838...112,310,082
Ensembl chr 3:91,841,052...91,855,295
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G |
Wt1 |
WT1 transcription factor |
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ISO |
ClinVar Annotator: match by term: Aniridia 1 |
ClinVar |
PMID:1302008 PMID:1327525 PMID:1338906 PMID:1655284 PMID:1658787 PMID:6307071 PMID:7795587 PMID:8295405 PMID:8388765 PMID:8810912 PMID:8975729 PMID:9090524 PMID:9108089 PMID:9398852 PMID:9475094 PMID:9499425 PMID:9529364 PMID:9531607 PMID:9536098 PMID:9607189 PMID:9745866 PMID:10470095 PMID:10505700 PMID:10571943 PMID:10762296 PMID:11182928 PMID:11241055 PMID:11278460 PMID:11322369 PMID:11738793 PMID:12471221 PMID:12970737 PMID:15150775 PMID:15483024 PMID:15509792 PMID:16439601 PMID:16932893 PMID:17496156 PMID:17541636 PMID:17576681 PMID:17630404 PMID:17694336 PMID:17853480 PMID:18203154 PMID:18618575 PMID:18644976 PMID:19205749 PMID:19221039 PMID:20106868 PMID:20442690 PMID:20595692 PMID:21125408 PMID:21499692 PMID:21504297 PMID:21508141 PMID:21851196 PMID:22099579 PMID:22172722 PMID:23117548 PMID:23295293 PMID:23497137 PMID:23515051 PMID:23715653 PMID:23935527 PMID:24033266 PMID:24138039 PMID:24728327 PMID:24856380 PMID:25145932 PMID:25349199 PMID:25383892 PMID:25501161 PMID:25623218 PMID:25720465 PMID:25741868 PMID:25818337 PMID:26069768 PMID:26090994 PMID:26248470 PMID:26467025 PMID:26661695 PMID:26882358 PMID:27013732 PMID:27124303 PMID:27300205 PMID:27719739 PMID:27899157 PMID:28204945 PMID:28334862 PMID:28492532 PMID:28780565 PMID:29474669 PMID:30406062 PMID:30721404 PMID:30963316 PMID:31937884 PMID:32352694 PMID:32581362 PMID:32604935 PMID:32891756 PMID:33226606 PMID:34386660 PMID:34490048 PMID:34727091 PMID:35904974 PMID:38219185 More...
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NCBI chr 3:112,019,721...112,068,454
Ensembl chr 3:91,567,001...91,613,643
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G |
Elp4 |
elongator acetyltransferase complex subunit 4 |
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ISO |
ClinVar Annotator: match by term: Aniridia 2 | ClinVar Annotator: match by term: ELP4-related condition |
OMIM ClinVar |
PMID:25741868 PMID:26010655 PMID:28492532 |
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NCBI chr 3:112,617,020...112,839,963
Ensembl chr 3:92,162,280...92,385,243
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G |
Trim44 |
tripartite motif-containing 44 |
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ISO |
ClinVar Annotator: match by term: Aniridia 3 |
OMIM ClinVar |
PMID:25741868 PMID:26394807 |
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NCBI chr 3:109,048,643...109,183,821
Ensembl chr 3:88,592,719...88,729,188
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G |
Tp63 |
tumor protein p63 |
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ISO |
ClinVar Annotator: match by term: Ankyloblepharon filiforme congenitum |
ClinVar |
PMID:25741868 |
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NCBI chr11:88,343,647...88,554,543
Ensembl chr11:74,838,859...75,049,398
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G |
Tp63 |
tumor protein p63 |
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ISO ISS |
OMIM:106260 ClinVar Annotator: match by term: Ankyloblepharon-ectodermal defects, cleft lip/palate | ClinVar Annotator: match by term: Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome DNA:missense mutations:exon:multiple CTD Direct Evidence: marker/mechanism |
OMIM MouseDO ClinVar CTD RGD |
PMID:9536098 PMID:9774969 PMID:10886756 PMID:11159940 PMID:15200513 PMID:16740912 PMID:17576681 PMID:19239083 PMID:19353588 PMID:19676059 PMID:19793345 PMID:21615690 PMID:24309930 PMID:25741868 PMID:28492532 PMID:11159940 More...
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RGD:11568643 |
NCBI chr11:88,343,647...88,554,543
Ensembl chr11:74,838,859...75,049,398
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G |
Arhgap35 |
Rho GTPase activating protein 35 |
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ISO |
ClinVar Annotator: match by term: Anophthalmia |
ClinVar |
PMID:25741868 PMID:36450800 |
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NCBI chr 1:86,330,566...86,447,414
Ensembl chr 1:77,202,436...77,319,298
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G |
Elp4 |
elongator acetyltransferase complex subunit 4 |
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ISO |
ClinVar Annotator: match by term: Anophthalmia |
ClinVar |
PMID:25741868 |
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NCBI chr 3:112,617,020...112,839,963
Ensembl chr 3:92,162,280...92,385,243
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G |
Otx2 |
orthodenticle homeobox 2 |
|
ISO |
ClinVar Annotator: match by term: Anophthalmia |
ClinVar |
PMID:25741868 PMID:29178648 |
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NCBI chr15:24,422,876...24,432,709
Ensembl chr15:21,943,191...21,953,416
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G |
Pax6 |
paired box 6 |
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ISO |
ClinVar Annotator: match by term: Anophthalmia |
ClinVar |
PMID:25741868 |
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NCBI chr 3:112,590,034...112,611,771
Ensembl chr 3:92,135,637...92,157,014
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G |
Rax |
retina and anterior neural fold homeobox |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15789424 |
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NCBI chr18:61,733,322...61,737,444
Ensembl chr18:59,463,737...59,467,431
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G |
Rbp4 |
retinol binding protein 4 |
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ISO |
ClinVar Annotator: match by term: Anophthalmia |
ClinVar |
PMID:25741868 PMID:25910211 |
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NCBI chr 1:245,306,349...245,313,551
Ensembl chr 1:235,893,917...235,901,399
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G |
Sox2 |
SRY-box transcription factor 2 |
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ISO |
DNA:nonsense mutations: :multiple ClinVar Annotator: match by term: Anophthalmia CTD Direct Evidence: marker/mechanism |
ClinVar CTD RGD |
PMID:21532573 PMID:25741868 PMID:12612584 |
RGD:1599088 |
NCBI chr 2:119,465,131...119,467,542
Ensembl chr 2:117,536,929...117,539,338
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G |
Stra6 |
signaling receptor and transporter of retinol STRA6 |
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ISO |
CTD Direct Evidence: marker/mechanism DNA:frameshift mutation, missense mutations:CDS:multiple (human) |
CTD RGD |
PMID:17273977 PMID:17273977 |
RGD:155631287 |
NCBI chr 8:67,444,757...67,464,719
Ensembl chr 8:58,549,736...58,568,860
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G |
Vsx2 |
visual system homeobox 2 |
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ISO |
ClinVar Annotator: match by term: Anophthalmia |
ClinVar |
PMID:15257456 PMID:20414678 PMID:23028343 PMID:25741868 PMID:28492532 |
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NCBI chr 6:109,932,943...109,972,005
Ensembl chr 6:104,217,230...104,240,018
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G |
Adamts17 |
ADAM metallopeptidase with thrombospondin type 1 motif, 17 |
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ISO |
ClinVar Annotator: match by term: Anterior segment dysgenesis |
ClinVar |
PMID:19836009 PMID:24940034 PMID:28492532 PMID:32499604 |
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NCBI chr 1:120,445,800...120,768,204
Ensembl chr 1:120,445,749...120,768,202
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G |
Col4a1 |
collagen type IV alpha 1 chain |
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ISO |
ClinVar Annotator: match by term: Anterior segment dysgenesis |
ClinVar |
PMID:7695699 PMID:8218237 PMID:9016532 PMID:17078022 PMID:19344236 PMID:25590979 PMID:25741868 PMID:28492532 PMID:30181649 PMID:32499604 More...
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NCBI chr16:84,885,597...84,996,482
Ensembl chr16:78,183,533...78,294,412
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G |
Cpamd8 |
C3 and PZP-like, alpha-2-macroglobulin domain containing 8 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Anterior segment dysgenesis |
CTD ClinVar |
PMID:27839872 PMID:32499604 |
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NCBI chr 4:155,332,827...155,413,098
Ensembl chr 4:155,332,827...155,413,117
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G |
Cyp1b1 |
cytochrome P450, family 1, subfamily b, polypeptide 1 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Anterior segment dysgenesis | ClinVar Annotator: match by term: Ocular anterior segment dysgenesis |
CTD ClinVar |
PMID:9097971 PMID:9497261 PMID:10655546 PMID:11403040 PMID:11527932 PMID:12036985 PMID:15342693 PMID:15475877 PMID:17591938 PMID:18470941 PMID:18622259 PMID:18852424 PMID:19179758 PMID:19234632 PMID:19643970 PMID:22004014 PMID:23218701 PMID:23922489 PMID:24033266 PMID:24281366 PMID:24940937 PMID:25741868 PMID:26550445 PMID:27243976 PMID:27272408 PMID:27508083 PMID:27777502 PMID:27820421 PMID:28192799 PMID:28448622 PMID:28492532 PMID:30520782 PMID:32499604 PMID:32832252 More...
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NCBI chr 6:21,093,927...21,103,091
Ensembl chr 6:15,342,344...15,350,917
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G |
Eya1 |
EYA transcriptional coactivator and phosphatase 1 |
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ISO |
ClinVar Annotator: match by term: Anterior segment anomalies | ClinVar Annotator: match by term: Anterior segment anomalies and cataract |
ClinVar |
PMID:10655545 |
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NCBI chr 5:9,646,599...9,884,609
Ensembl chr 5:4,955,543...5,101,483
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G |
Foxc1 |
forkhead box C1 |
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ISO |
ClinVar Annotator: match by term: Anterior segment dysgenesis |
ClinVar RGD |
PMID:28492532 PMID:28513611 PMID:32499604 PMID:10767326 |
RGD:8662365 |
NCBI chr17:32,840,119...32,844,100
Ensembl chr17:32,633,142...32,634,803
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G |
Foxe3 |
forkhead box E3 |
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ISO |
DNA:insertion:cds:c.943_944insG (human) ClinVar Annotator: match by term: Anterior segment dysgenesis | ClinVar Annotator: match by term: Ocular anterior segment dysgenesis |
ClinVar RGD |
PMID:11159941 PMID:11980846 PMID:16826526 PMID:19708017 PMID:20140963 PMID:20301299 PMID:20361012 PMID:24033266 PMID:24033328 PMID:24689660 PMID:25504734 PMID:25741868 PMID:26854927 PMID:27218149 PMID:28492532 PMID:29136273 PMID:29314435 PMID:29878917 PMID:32499604 PMID:33726816 PMID:34046667 PMID:11159941 More...
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RGD:1598957 |
NCBI chr 5:133,681,684...133,683,266
Ensembl chr 5:128,445,594...128,446,454
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G |
Gja8 |
gap junction protein, alpha 8 |
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ISO |
ClinVar Annotator: match by term: Anterior segment dysgenesis |
ClinVar |
PMID:25741868 PMID:28455998 PMID:31690835 PMID:32499604 PMID:35980487 |
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NCBI chr 2:187,179,668...187,181,284
Ensembl chr 2:184,490,840...184,492,456
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G |
Itpr1 |
inositol 1,4,5-trisphosphate receptor, type 1 |
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ISO |
ClinVar Annotator: match by term: Anterior segment dysgenesis |
ClinVar |
PMID:25741868 PMID:27108798 PMID:32499604 |
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NCBI chr 4:142,743,401...143,066,505
Ensembl chr 4:141,187,418...141,510,491
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G |
Pax6 |
paired box 6 |
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ISO |
ClinVar Annotator: match by term: Anterior segment dysgenesis |
ClinVar |
PMID:24281366 PMID:32499604 |
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NCBI chr 3:112,590,034...112,611,771
Ensembl chr 3:92,135,637...92,157,014
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G |
Pitx2 |
paired-like homeodomain 2 |
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ISO |
ClinVar Annotator: match by term: Anterior segment dysgenesis |
ClinVar |
PMID:7581385 PMID:9437321 PMID:15591271 PMID:22569110 PMID:25741868 PMID:29664915 PMID:32499604 PMID:35882526 More...
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NCBI chr 2:220,391,417...220,411,588
Ensembl chr 2:217,717,693...217,737,293
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G |
Pitx3 |
paired-like homeodomain 3 |
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ISO ISS |
DNA:insertion:exon:c.657ins17bp CTD Direct Evidence: marker/mechanism |
MouseDO CTD RGD |
PMID:9620774 PMID:18989383 PMID:18989383 |
RGD:11535067 |
NCBI chr 1:254,942,550...254,955,325
Ensembl chr 1:245,001,164...245,013,892
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G |
Pxdn |
peroxidasin |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Anterior segment dysgenesis | ClinVar Annotator: match by term: SCLEROCORNEA WITH OTHER OCULAR ANOMALIES |
CTD ClinVar |
PMID:25741868 PMID:26694549 PMID:28492532 PMID:32499604 |
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NCBI chr 6:52,308,347...52,385,943
Ensembl chr 6:46,580,761...46,658,345
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G |
Rbp4 |
retinol binding protein 4 |
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ISO |
ClinVar Annotator: match by term: Anterior segment dysgenesis |
ClinVar |
PMID:25741868 |
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NCBI chr 1:245,306,349...245,313,551
Ensembl chr 1:235,893,917...235,901,399
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G |
Ryr1 |
ryanodine receptor 1 |
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ISO |
ClinVar Annotator: match by term: SCLEROCORNEA WITH OTHER OCULAR ANOMALIES |
ClinVar |
PMID:18414213 PMID:20681998 PMID:22473935 PMID:23394784 PMID:23919265 PMID:24033266 PMID:24950660 PMID:25214167 PMID:25658027 PMID:25735680 PMID:25741868 PMID:25958340 PMID:25960145 PMID:28259615 PMID:28492532 PMID:29701772 PMID:30611313 PMID:31206373 PMID:31517061 PMID:32236737 PMID:34008892 PMID:35428369 PMID:36628841 More...
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NCBI chr 1:93,420,078...93,551,305
Ensembl chr 1:84,292,578...84,423,812
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G |
Tsc1 |
TSC complex subunit 1 |
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ISS |
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MouseDO |
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NCBI chr 3:32,367,434...32,416,565
Ensembl chr 3:11,979,729...12,015,674
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G |
Foxe3 |
forkhead box E3 |
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ISO |
ClinVar Annotator: match by term: Anterior segment dysgenesis 1 |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 5:133,681,684...133,683,266
Ensembl chr 5:128,445,594...128,446,454
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G |
Gbf1 |
golgi brefeldin A resistant guanine nucleotide exchange factor 1 |
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ISO |
ClinVar Annotator: match by term: ANTERIOR SEGMENT DYSGENESIS 1, MULTIPLE SUBTYPES | ClinVar Annotator: match by term: Anterior segment dysgenesis 1 |
ClinVar |
PMID:6801987 PMID:9620774 PMID:10361984 PMID:15286169 PMID:17888164 PMID:18989383 PMID:21836522 PMID:24555714 PMID:25741868 PMID:28492532 PMID:29405783 PMID:30816539 PMID:30894134 PMID:31848469 PMID:32830442 PMID:33304895 PMID:33923544 More...
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NCBI chr 1:254,959,784...255,088,479
Ensembl chr 1:245,018,568...245,147,042
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G |
Pitx2 |
paired-like homeodomain 2 |
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ISO |
ClinVar Annotator: match by term: Anterior segment dysgenesis 1 |
ClinVar |
PMID:15378534 PMID:25741868 PMID:26220699 PMID:28492532 |
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NCBI chr 2:220,391,417...220,411,588
Ensembl chr 2:217,717,693...217,737,293
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G |
Pitx3 |
paired-like homeodomain 3 |
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ISO |
ClinVar Annotator: match by term: ANTERIOR SEGMENT DYSGENESIS 1, MULTIPLE SUBTYPES | ClinVar Annotator: match by term: Anterior segment dysgenesis 1 |
OMIM ClinVar |
PMID:6801987 PMID:9620774 PMID:10361984 PMID:15286169 PMID:17888164 PMID:18989383 PMID:21836522 PMID:24555714 PMID:25741868 PMID:28492532 PMID:29405783 PMID:30816539 PMID:30894134 PMID:31848469 PMID:32830442 PMID:33304895 PMID:33923544 More...
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NCBI chr 1:254,942,550...254,955,325
Ensembl chr 1:245,001,164...245,013,892
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G |
Foxe3 |
forkhead box E3 |
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ISO |
ClinVar Annotator: match by term: ANTERIOR SEGMENT DYSGENESIS 2 |
ClinVar OMIM |
PMID:11159941 PMID:11980846 PMID:16826526 PMID:19708017 PMID:20140963 PMID:24033266 PMID:24033328 PMID:24689660 PMID:25504734 PMID:25741868 PMID:26854927 PMID:28492532 PMID:29136273 PMID:29314435 PMID:29878917 PMID:33726816 PMID:34046667 More...
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NCBI chr 5:133,681,684...133,683,266
Ensembl chr 5:128,445,594...128,446,454
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G |
Foxc1 |
forkhead box C1 |
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ISO |
ClinVar Annotator: match by term: Anterior segment dysgenesis 3 | ClinVar Annotator: match by term: Glaucoma iridogoniodysplasia, familial CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9620769 PMID:9792859 PMID:11007653 PMID:11170889 PMID:12036988 PMID:16638984 PMID:19513095 PMID:19668217 PMID:19793056 PMID:20881294 PMID:24556684 PMID:25741868 PMID:28492532 PMID:30143558 PMID:31836490 PMID:32475988 PMID:32832252 PMID:34741396 PMID:34745210 PMID:35882526 More...
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NCBI chr17:32,840,119...32,844,100
Ensembl chr17:32,633,142...32,634,803
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G |
Pitx2 |
paired-like homeodomain 2 |
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ISO |
ClinVar Annotator: match by term: Anterior segment dysgenesis 4 | ClinVar Annotator: match by term: Iris hypoplasia with early onset glaucoma, autosomal dominant CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:7581385 PMID:8942889 PMID:9437321 PMID:9618168 PMID:10502778 PMID:25741868 PMID:28492532 PMID:32499604 More...
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NCBI chr 2:220,391,417...220,411,588
Ensembl chr 2:217,717,693...217,737,293
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G |
Cyp1b1 |
cytochrome P450, family 1, subfamily b, polypeptide 1 |
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ISO |
ClinVar Annotator: match by term: ANTERIOR SEGMENT DYSGENESIS 5 |
ClinVar |
PMID:9097971 PMID:9497261 PMID:10655546 PMID:11403040 PMID:11527932 PMID:11558822 PMID:11774072 PMID:11854439 PMID:11980847 PMID:12036985 PMID:12525557 PMID:14507861 PMID:15037581 PMID:15342693 PMID:16688110 PMID:16735991 PMID:16735994 PMID:16862072 PMID:17363580 PMID:17563717 PMID:17591938 PMID:17718864 PMID:18470941 PMID:18622259 PMID:18852424 PMID:19204079 PMID:19234632 PMID:19236111 PMID:19536304 PMID:19643970 PMID:19744731 PMID:19793111 PMID:20151268 PMID:20198978 PMID:20664688 PMID:21081970 PMID:21168818 PMID:21572728 PMID:21815720 PMID:21850185 PMID:21854771 PMID:22004014 PMID:22128238 PMID:23028769 PMID:23218183 PMID:23218701 PMID:23922489 PMID:24033266 PMID:24123366 PMID:24227805 PMID:24281366 PMID:25091052 PMID:25333069 PMID:25527694 PMID:25580891 PMID:25646030 PMID:25741868 PMID:25950505 PMID:25978063 PMID:26550445 PMID:26997785 PMID:27060699 PMID:27243976 PMID:27270415 PMID:27272408 PMID:27408750 PMID:27508083 PMID:27535533 PMID:27777502 PMID:27820421 PMID:28384041 PMID:28448622 PMID:28492532 PMID:28620713 PMID:29142762 PMID:29556725 PMID:30108387 PMID:30484747 PMID:30520782 PMID:30653986 PMID:30788381 PMID:32476818 PMID:32499604 PMID:32510024 PMID:32832252 PMID:32883240 PMID:34956319 PMID:36239105 PMID:38219857 More...
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NCBI chr 6:21,093,927...21,103,091
Ensembl chr 6:15,342,344...15,350,917
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G |
Elp4 |
elongator acetyltransferase complex subunit 4 |
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ISO |
ClinVar Annotator: match by term: ANTERIOR SEGMENT DYSGENESIS 5 |
ClinVar |
PMID:8364574 PMID:10234503 PMID:22361317 PMID:25741868 PMID:28492532 |
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NCBI chr 3:112,617,020...112,839,963
Ensembl chr 3:92,162,280...92,385,243
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G |
Frem1 |
Fras1 related extracellular matrix 1 |
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ISO |
ClinVar Annotator: match by term: ANTERIOR SEGMENT DYSGENESIS 5 |
ClinVar |
PMID:21931569 PMID:26893459 PMID:28492532 |
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NCBI chr 5:97,321,266...97,469,523
Ensembl chr 5:97,322,538...97,469,543
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G |
Pax6 |
paired box 6 |
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ISO |
ClinVar Annotator: match by term: ANTERIOR SEGMENT DYSGENESIS 5 | ClinVar Annotator: match by term: ANTERIOR SEGMENT DYSGENESIS 5, MULTIPLE SUBTYPES | ClinVar Annotator: match by term: ANTERIOR SEGMENT DYSGENESIS 5, PETERS ANOMALY SUBTYPE |
OMIM ClinVar |
PMID:1251879 PMID:1684738 PMID:1954207 PMID:6988567 PMID:8364574 PMID:9727514 PMID:9792406 PMID:10234503 PMID:10441571 PMID:12015275 PMID:12634864 PMID:12721955 PMID:12868034 PMID:14561779 PMID:15086958 PMID:15579687 PMID:16199547 PMID:17417613 PMID:18483559 PMID:18776953 PMID:20577777 PMID:22361317 PMID:22692063 PMID:25741868 PMID:26604670 PMID:26661695 PMID:28321846 PMID:28488383 PMID:28492532 PMID:31700164 More...
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NCBI chr 3:112,590,034...112,611,771
Ensembl chr 3:92,135,637...92,157,014
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G |
Pitx2 |
paired-like homeodomain 2 |
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ISO |
ClinVar Annotator: match by term: ANTERIOR SEGMENT DYSGENESIS 5 |
ClinVar |
PMID:15378534 PMID:25741868 PMID:26220699 PMID:28492532 |
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NCBI chr 2:220,391,417...220,411,588
Ensembl chr 2:217,717,693...217,737,293
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G |
Ptch1 |
patched 1 |
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ISO |
ClinVar Annotator: match by term: ANTERIOR SEGMENT DYSGENESIS 5 |
ClinVar |
PMID:1347096 PMID:26893459 PMID:28492532 |
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NCBI chr17:1,542,705...1,607,730
Ensembl chr17:1,542,877...1,607,333
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G |
Cyp1b1 |
cytochrome P450, family 1, subfamily b, polypeptide 1 |
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ISO |
ClinVar Annotator: match by term: Anterior segment dysgenesis 6 | ClinVar Annotator: match by term: Anterior segment dysgenesis 6, multiple subtypes | ClinVar Annotator: match by term: CYP1B1-related disorder |
OMIM ClinVar |
PMID:2782041 PMID:9097971 PMID:9463332 PMID:9497261 PMID:10227395 PMID:10426814 PMID:10655546 PMID:10739169 PMID:10910054 PMID:11184479 PMID:11403040 PMID:11527932 PMID:11558822 PMID:11774072 PMID:11980847 PMID:12036985 PMID:12372064 PMID:12525557 PMID:12598442 PMID:14507861 PMID:14635112 PMID:15037581 PMID:15255109 PMID:15342693 PMID:15621878 PMID:16384942 PMID:16688110 PMID:16735991 PMID:16735994 PMID:17164573 PMID:17224759 PMID:17363580 PMID:17563717 PMID:17591938 PMID:17718864 PMID:17893647 PMID:18055790 PMID:18070520 PMID:18227148 PMID:18414103 PMID:18470941 PMID:18537981 PMID:18622259 PMID:18852424 PMID:19195637 PMID:19204079 PMID:19234632 PMID:19236111 PMID:19247456 PMID:19536304 PMID:19643970 PMID:19744731 PMID:19793111 PMID:19807744 PMID:20057908 PMID:20151268 PMID:20664688 PMID:20827438 PMID:21081970 PMID:21168818 PMID:21306220 PMID:21572728 PMID:21600657 PMID:21815720 PMID:21850185 PMID:21854771 PMID:22004014 PMID:22878448 PMID:22942166 PMID:23028769 PMID:23218183 PMID:23218701 PMID:23922489 PMID:24033266 PMID:24123366 PMID:24227805 PMID:24281366 PMID:24940937 PMID:25018621 PMID:25091052 PMID:25109919 PMID:25261878 PMID:25333069 PMID:25527694 PMID:25580891 PMID:25646030 PMID:25741868 PMID:25826643 PMID:25950505 PMID:25952714 PMID:25978063 PMID:26550445 PMID:26550974 PMID:26997785 PMID:27060699 PMID:27243976 PMID:27272408 PMID:27408750 PMID:27508083 PMID:27535533 PMID:27777502 PMID:27820421 PMID:28192799 PMID:28384041 PMID:28448622 PMID:28492532 PMID:28620713 PMID:28644236 PMID:29142762 PMID:29556725 PMID:30108387 PMID:30653986 PMID:30662834 PMID:30788381 PMID:30820150 PMID:31024815 PMID:32224865 PMID:32476818 PMID:32499604 PMID:32510024 PMID:32830442 PMID:32832252 PMID:32860008 PMID:35085548 PMID:35170016 PMID:36076309 PMID:36239105 PMID:38219857 PMID:38755526 More...
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NCBI chr 6:21,093,927...21,103,091
Ensembl chr 6:15,342,344...15,350,917
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G |
Pxdn |
peroxidasin |
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ISO |
ClinVar Annotator: match by term: Anterior segment dysgenesis 7 | ClinVar Annotator: match by term: SCLEROCORNEA WITH OTHER OCULAR ANOMALIES |
OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:21474777 PMID:21907015 PMID:24939590 PMID:25741868 PMID:26694549 PMID:28492532 PMID:32499604 More...
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NCBI chr 6:52,308,347...52,385,943
Ensembl chr 6:46,580,761...46,658,345
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G |
Ryr1 |
ryanodine receptor 1 |
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ISO |
ClinVar Annotator: match by term: SCLEROCORNEA WITH OTHER OCULAR ANOMALIES |
ClinVar |
PMID:18414213 PMID:20681998 PMID:22473935 PMID:23394784 PMID:23919265 PMID:24033266 PMID:24950660 PMID:25214167 PMID:25658027 PMID:25735680 PMID:25741868 PMID:25958340 PMID:25960145 PMID:28259615 PMID:28492532 PMID:29701772 PMID:30611313 PMID:31206373 PMID:31517061 PMID:32236737 PMID:34008892 PMID:35428369 PMID:36628841 More...
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NCBI chr 1:93,420,078...93,551,305
Ensembl chr 1:84,292,578...84,423,812
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G |
Tpo |
thyroid peroxidase |
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ISO |
ClinVar Annotator: match by term: Anterior segment dysgenesis 7 |
ClinVar |
PMID:28492532 |
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NCBI chr 6:52,425,998...52,495,793
Ensembl chr 6:46,698,414...46,768,199
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G |
Bcor |
BCL6 co-repressor |
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ISO |
ClinVar Annotator: match by term: Anterior segment dysgenesis 8 |
ClinVar |
PMID:25741868 |
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NCBI chr X:13,282,431...13,402,254
Ensembl chr X:10,687,732...10,729,613
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G |
Cpamd8 |
C3 and PZP-like, alpha-2-macroglobulin domain containing 8 |
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ISO |
ClinVar Annotator: match by term: Anterior segment dysgenesis 8 | ClinVar Annotator: match by term: CPAMD8-related condition |
OMIM ClinVar |
PMID:16199547 PMID:25741868 PMID:27839872 PMID:28492532 PMID:29556725 PMID:32499604 More...
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NCBI chr 4:155,332,827...155,413,098
Ensembl chr 4:155,332,827...155,413,117
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Smchd1 |
structural maintenance of chromosomes flexible hinge domain containing 1 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Arhinia, choanal atresia, and microphthalmia |
CTD ClinVar OMIM |
PMID:672092 PMID:5032329 PMID:6802865 PMID:8446727 PMID:8723126 PMID:11321738 PMID:16353241 PMID:23143600 PMID:23432817 PMID:23852095 PMID:25741868 PMID:26440771 PMID:26467025 PMID:26842768 PMID:28067909 PMID:28067911 PMID:28492532 PMID:31243061 PMID:31312724 More...
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NCBI chr 9:118,690,050...118,837,281
Ensembl chr 9:111,247,702...111,349,665
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Fbn1 |
fibrillin 1 |
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ISO |
ClinVar Annotator: match by term: Ectopia lentis 1, isolated, autosomal dominant |
OMIM ClinVar |
PMID:370588 PMID:627879 PMID:845663 PMID:948948 PMID:2005308 PMID:2254511 PMID:3212331 PMID:3495735 PMID:4750422 PMID:7611299 PMID:7738200 PMID:7762551 PMID:7802039 PMID:7870075 PMID:8004112 PMID:8040326 PMID:8136837 PMID:8188302 PMID:8281141 PMID:8430317 PMID:8541880 PMID:8563763 PMID:8653794 PMID:8723076 PMID:8791520 PMID:8988160 PMID:9150726 PMID:9338581 PMID:9338588 PMID:9399842 PMID:9401003 PMID:9452085 PMID:9536098 PMID:9817919 PMID:9837823 PMID:9876915 PMID:10189222 PMID:10198291 PMID:10229672 PMID:10464652 PMID:10486319 PMID:10533071 PMID:10612827 PMID:10633129 PMID:10679954 PMID:10694921 PMID:10756346 PMID:10942427 PMID:11068200 PMID:11139245 PMID:11143906 PMID:11175294 PMID:11315929 PMID:11524736 PMID:11700157 PMID:11702223 PMID:11706995 PMID:11748851 PMID:11826022 PMID:11875032 PMID:11880731 PMID:11933199 PMID:11992479 PMID:12068374 PMID:12161601 PMID:12203987 PMID:12203992 PMID:12402346 PMID:12446365 PMID:12938084 PMID:14695540 PMID:15054843 PMID:15062093 PMID:15161917 PMID:15241795 PMID:15598221 PMID:15880509 PMID:15980072 PMID:15983637 PMID:16061422 PMID:16199547 PMID:16220557 PMID:16222657 PMID:16342915 PMID:16571647 PMID:16677079 PMID:16756980 PMID:16765689 PMID:16835936 PMID:16905551 PMID:16971892 PMID:17242066 PMID:17253931 PMID:17418587 PMID:17503327 PMID:17576681 PMID:17627385 PMID:17657824 PMID:17663468 PMID:17679947 PMID:17701892 PMID:17718856 PMID:18079676 PMID:18087243 PMID:18435798 PMID:18615205 PMID:19012347 PMID:19059503 PMID:19089573 PMID:19159394 PMID:19161152 PMID:19293843 PMID:19328768 PMID:19349279 PMID:19353630 PMID:19370756 PMID:19396033 PMID:19533785 PMID:19618372 PMID:19780835 PMID:19802897 PMID:19839986 PMID:19863550 PMID:19941982 PMID:20082464 PMID:20200614 PMID:20301510 PMID:20375004 PMID:20564469 PMID:20591885 PMID:20699357 PMID:20886638 PMID:21542060 PMID:21683322 PMID:21784848 PMID:21883168 PMID:21895641 PMID:21907952 PMID:21932315 PMID:22539873 PMID:22772377 PMID:22950452 PMID:23278365 PMID:23506379 PMID:23577066 PMID:23590259 PMID:23608731 PMID:23653584 PMID:23684891 PMID:23719250 PMID:23794388 PMID:24033266 PMID:24055113 PMID:24161884 PMID:24199744 PMID:24311428 PMID:24564502 PMID:24698609 PMID:24740214 PMID:24793577 PMID:24833718 PMID:24941995 PMID:25053872 PMID:25101912 PMID:25203624 PMID:25326635 PMID:25363768 PMID:25519456 PMID:25637381 PMID:25644172 PMID:25652356 PMID:25741868 PMID:25812041 PMID:25852444 PMID:25900864 PMID:25907466 PMID:25944730 PMID:26017485 PMID:26133393 PMID:26188975 PMID:26214305 PMID:26269718 PMID:26272055 PMID:26272908 PMID:26332594 PMID:26333736 PMID:26498160 PMID:26559152 PMID:26621581 PMID:26684006 PMID:26764160 PMID:26787436 PMID:26875674 PMID:27058611 PMID:27106435 PMID:27112580 PMID:27146836 PMID:27153395 PMID:27234404 PMID:27245183 PMID:27274304 PMID:27353645 PMID:27437668 PMID:27582083 PMID:27611364 PMID:27647783 PMID:27724990 PMID:27854218 PMID:27906200 PMID:27930701 PMID:27959697 PMID:28050602 PMID:28087566 PMID:28098115 PMID:28254189 PMID:28301460 PMID:28391405 PMID:28468757 PMID:28492532 PMID:28497567 PMID:28539832 PMID:28550590 PMID:28636274 PMID:28642162 PMID:28650953 PMID:28655553 PMID:28659821 PMID:28847661 PMID:28855619 PMID:28901506 PMID:28941062 PMID:28944857 PMID:28973303 PMID:29168297 PMID:29198452 PMID:29357934 PMID:29510914 PMID:29543232 PMID:29768367 PMID:29845260 PMID:29848614 PMID:29875124 PMID:29907982 PMID:30056620 PMID:30057829 PMID:30086531 PMID:30341550 PMID:30393980 PMID:30471092 PMID:30513137 PMID:30542390 PMID:30653986 PMID:30675029 PMID:30739908 PMID:30838813 PMID:31008308 PMID:31019026 PMID:31020005 PMID:31098894 PMID:31131229 PMID:31163209 PMID:31167969 PMID:31211624 PMID:31211626 PMID:31227806 PMID:31322791 PMID:31447099 PMID:31506931 PMID:31536524 PMID:31605817 PMID:31727422 PMID:31730815 PMID:31751304 PMID:31774634 PMID:31825148 PMID:31903434 PMID:31950671 PMID:32009526 PMID:32123317 PMID:32277046 PMID:32679894 PMID:32730690 PMID:32938213 PMID:32939518 PMID:33100332 PMID:33174221 PMID:33200202 PMID:33243733 PMID:33282382 PMID:33436942 PMID:33483584 PMID:33824467 PMID:34008892 PMID:34135346 PMID:34140103 PMID:34281902 PMID:34422331 PMID:34456093 PMID:34498425 PMID:34550612 PMID:34653508 PMID:34818515 PMID:35042684 PMID:35058154 PMID:35234813 PMID:35531120 PMID:35877578 PMID:35943490 PMID:36517271 PMID:36670079 PMID:36729443 PMID:36973604 PMID:37042257 PMID:37460677 PMID:37684520 PMID:37904629 PMID:38190127 PMID:38958128 More...
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NCBI chr 3:133,007,693...133,204,277
Ensembl chr 3:112,554,925...112,750,889
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Ltbp2 |
latent transforming growth factor beta binding protein 2 |
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ISO |
ClinVar Annotator: match by term: Ectopia lentis 1, isolated, autosomal dominant |
ClinVar |
PMID:23218701 PMID:23401661 PMID:25741868 PMID:28492532 |
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NCBI chr 6:110,161,029...110,261,586
Ensembl chr 6:104,429,947...104,526,208
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Adamtsl4 |
ADAMTS-like 4 |
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ISO ISS |
ClinVar Annotator: match by term: ADAMTSL4-related condition | ClinVar Annotator: match by term: Ectopia lentis 2, isolated, autosomal recessive OMIM:225100 |
OMIM ClinVar MouseDO |
PMID:2056446 PMID:2377351 PMID:9536098 PMID:17576681 PMID:19200529 PMID:20141359 PMID:20564469 PMID:20702823 PMID:21051722 PMID:22338190 PMID:22736615 PMID:22871183 PMID:23426735 PMID:24033266 PMID:24802351 PMID:25741868 PMID:25975359 PMID:26653794 PMID:28394649 PMID:28492532 PMID:28642162 PMID:31837199 PMID:31848469 PMID:35042684 PMID:35378950 PMID:36089008 PMID:36208099 PMID:37107549 More...
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NCBI chr 2:183,235,634...183,247,091
Ensembl chr 2:183,235,646...183,246,848
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Col4a1 |
collagen type IV alpha 1 chain |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17696175 PMID:20385946 |
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NCBI chr16:84,885,597...84,996,482
Ensembl chr16:78,183,533...78,294,412
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Dact1 |
dishevelled-binding antagonist of beta-catenin 1 |
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ISO |
ClinVar Annotator: match by term: Rieger anomaly |
ClinVar |
PMID:26893459 |
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NCBI chr 6:95,526,645...95,538,625
Ensembl chr 6:89,790,644...89,817,906
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Foxc1 |
forkhead box C1 |
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ISO |
DNA:mutation:cds:272T>C,p.I91T(human) ClinVar Annotator: match by term: Axenfeld-rieger anomaly with or without cardiac defects and/or sensorineural hearing loss DNA:mutation:cds:p.Q120X(human) DNA:mutation:cds:p.F112S(human) |
ClinVar RGD |
PMID:11740218 PMID:14506133 PMID:24914578 PMID:25741868 PMID:28492532 PMID:28979898 PMID:30143558 PMID:32475988 PMID:35882526 PMID:15477465 PMID:18498376 PMID:12614756 More...
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RGD:12904042, RGD:12904045, RGD:12904044 |
NCBI chr17:32,840,119...32,844,100
Ensembl chr17:32,633,142...32,634,803
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Fras1 |
Fraser extracellular matrix complex subunit 1 |
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ISO |
ClinVar Annotator: match by term: Rieger anomaly |
ClinVar |
PMID:25741868 PMID:26893459 PMID:28492532 |
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NCBI chr14:13,095,370...13,506,895
Ensembl chr14:12,793,599...13,200,726
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Frem1 |
Fras1 related extracellular matrix 1 |
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ISO |
ClinVar Annotator: match by term: Iridogoniodysgenesis with somatic anomalies |
ClinVar |
PMID:21931569 PMID:26893459 PMID:28492532 |
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NCBI chr 5:97,321,266...97,469,523
Ensembl chr 5:97,322,538...97,469,543
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Pitx2 |
paired-like homeodomain 2 |
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ISO |
DNA:point mutation:exon:p.W86C (c.840G>T) (human) ClinVar Annotator: match by term: Axenfeld-Rieger syndrome | ClinVar Annotator: match by term: Rieger anomaly DNA:missense mutation: :p.G137V (g.20913G>T) (human) |
ClinVar RGD |
PMID:25741868 PMID:19052653 PMID:16876867 |
RGD:12910558, RGD:12910560 |
NCBI chr 2:220,391,417...220,411,588
Ensembl chr 2:217,717,693...217,737,293
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Ptch1 |
patched 1 |
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ISO |
ClinVar Annotator: match by term: Iridogoniodysgenesis with somatic anomalies | ClinVar Annotator: match by term: Rieger anomaly |
ClinVar |
PMID:1347096 PMID:26893459 PMID:28492532 |
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NCBI chr17:1,542,705...1,607,730
Ensembl chr17:1,542,877...1,607,333
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Alpk1 |
alpha-kinase 1 |
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ISO |
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 |
ClinVar |
PMID:25741868 |
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NCBI chr 2:218,801,425...218,924,013
Ensembl chr 2:216,128,825...216,247,157
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Ank2 |
ankyrin 2 |
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ISO |
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 |
ClinVar |
PMID:25741868 |
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NCBI chr 2:218,052,555...218,628,414
Ensembl chr 2:215,379,680...215,862,923
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Ap1ar |
adaptor-related protein complex 1 associated regulatory protein |
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ISO |
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 |
ClinVar |
PMID:25741868 |
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NCBI chr 2:216,276,631...216,309,020
Ensembl chr 2:216,276,631...216,309,013
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Fam241a |
family with sequence similarity 241 member A |
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ISO |
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 |
ClinVar |
PMID:25741868 |
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NCBI chr 2:216,344,563...216,375,193
Ensembl chr 2:216,343,822...216,375,242
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Hmgn2 |
high mobility group nucleosomal binding domain 2 |
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ISS |
OMIM:180500 |
MouseDO |
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NCBI chr 5:151,475,907...151,479,361
Ensembl chr 5:146,192,126...146,195,521 Ensembl chr16:146,192,126...146,195,521
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Larp7 |
La ribonucleoprotein 7, transcriptional regulator |
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ISO |
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 |
ClinVar |
PMID:25741868 |
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NCBI chr 2:215,997,641...216,012,833
Ensembl chr 2:215,997,649...216,012,865
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Neurog2 |
neurogenin 2 |
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ISO |
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 |
ClinVar |
PMID:25741868 |
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NCBI chr 2:218,767,205...218,769,772
Ensembl chr 2:216,093,363...216,094,154
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Pitx2 |
paired-like homeodomain 2 |
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ISO ISS |
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 OMIM:180500 |
OMIM ClinVar MouseDO |
PMID:8944018 PMID:9536098 PMID:9685346 PMID:10490637 PMID:11301317 PMID:11487566 PMID:12130547 PMID:12381896 PMID:12612071 PMID:15378534 PMID:15591271 PMID:15728254 PMID:15895993 PMID:16389592 PMID:16498627 PMID:16936096 PMID:17167399 PMID:17576681 PMID:18045789 PMID:18723525 PMID:19052653 PMID:19218601 PMID:19513095 PMID:20881294 PMID:22224469 PMID:22569110 PMID:24604414 PMID:25741868 PMID:26220699 PMID:28492532 PMID:28611552 PMID:28730073 PMID:29100920 PMID:29506241 PMID:29664915 PMID:30457409 PMID:31185933 PMID:31529555 PMID:32499604 PMID:33304895 PMID:33492563 PMID:35882526 More...
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NCBI chr 2:220,391,417...220,411,588
Ensembl chr 2:217,717,693...217,737,293
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Prdm5 |
PR/SET domain 5 |
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ISO |
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 |
ClinVar |
PMID:26489929 |
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NCBI chr 4:96,405,492...96,567,647
Ensembl chr 4:95,075,768...95,238,301
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Tifa |
TRAF-interacting protein with forkhead-associated domain |
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ISO |
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 |
ClinVar |
PMID:25741868 |
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NCBI chr 2:218,927,724...218,942,111
Ensembl chr 2:216,234,774...216,267,841
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Zgrf1 |
zinc finger, GRF-type containing 1 |
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ISO |
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 |
ClinVar |
PMID:25741868 |
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NCBI chr 2:218,687,413...218,750,104
Ensembl chr 2:216,013,005...216,074,750
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Adarb1 |
adenosine deaminase, RNA-specific, B1 |
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ISO |
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 |
ClinVar |
PMID:11170889 PMID:21681106 |
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NCBI chr20:11,222,171...11,350,416
Ensembl chr20:11,222,583...11,350,852
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Bmp4 |
bone morphogenetic protein 4 |
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ISS |
OMIM:602482 |
MouseDO |
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NCBI chr15:22,098,191...22,113,145
Ensembl chr15:19,618,542...19,623,306
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C20h21orf58 |
similar to human chromosome 21 open reading frame 58 |
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ISO |
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 |
ClinVar |
PMID:11170889 PMID:21681106 |
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NCBI chr20:12,165,853...12,187,271
Ensembl chr20:12,175,442...12,187,017
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Col18a1 |
collagen type XVIII alpha 1 chain |
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ISO |
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 |
ClinVar |
PMID:11170889 PMID:21681106 |
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NCBI chr20:11,473,645...11,582,111
Ensembl chr20:11,474,104...11,582,593
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Col6a1 |
collagen type VI alpha 1 chain |
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ISO |
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 |
ClinVar |
PMID:11170889 PMID:21681106 |
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NCBI chr20:11,905,690...11,924,111
Ensembl chr20:11,905,957...11,924,597
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Col6a2 |
collagen type VI alpha 2 chain |
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ISO |
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 |
ClinVar |
PMID:11170889 PMID:21681106 |
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NCBI chr20:12,021,182...12,048,932
Ensembl chr20:12,021,767...12,057,564
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Dip2a |
disco-interacting protein 2 homolog A |
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ISO |
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 |
ClinVar |
PMID:11170889 PMID:21681106 |
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NCBI chr20:12,284,566...12,371,068
Ensembl chr20:12,284,654...12,370,217
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Foxc1 |
forkhead box C1 |
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ISO |
ClinVar Annotator: match by term: AXENFELD-RIEGER ANOMALY WITH CARDIAC DEFECTS AND/OR SENSORINEURAL HEARING LOSS | ClinVar Annotator: match by term: Anterior chamber cleavage syndrome | ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 |
OMIM ClinVar |
PMID:9326342 PMID:9620769 PMID:9792859 PMID:10713890 PMID:11170889 PMID:11589884 PMID:11740218 PMID:12592227 PMID:12614756 PMID:14506133 PMID:14578375 PMID:15277473 PMID:16638984 PMID:16936096 PMID:17013732 PMID:17197537 PMID:17210863 PMID:18498376 PMID:18708620 PMID:19279310 PMID:19513095 PMID:19668217 PMID:19793056 PMID:20881294 PMID:22382802 PMID:22569110 PMID:23239455 PMID:24556684 PMID:24914578 PMID:25741868 PMID:25786029 PMID:25967385 PMID:27124303 PMID:27804176 PMID:28432732 PMID:28492532 PMID:28513611 PMID:28979898 PMID:30143558 PMID:30457409 PMID:30653986 PMID:31836490 PMID:32295643 PMID:32475988 PMID:32499604 PMID:32631953 PMID:34551306 PMID:34741396 PMID:34745210 PMID:35882526 More...
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NCBI chr17:32,840,119...32,844,100
Ensembl chr17:32,633,142...32,634,803
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Ftcd |
formimidoyltransferase cyclodeaminase |
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ISO |
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 |
ClinVar |
PMID:11170889 PMID:21681106 |
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NCBI chr20:12,054,710...12,068,219
Ensembl chr20:12,055,208...12,068,735
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Lss |
lanosterol synthase |
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ISO |
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 |
ClinVar |
PMID:11170889 PMID:21681106 |
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NCBI chr20:12,090,641...12,118,230
Ensembl chr20:12,092,774...12,118,762
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Mcm3ap |
minichromosome maintenance complex component 3 associated protein |
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ISO |
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 |
ClinVar |
PMID:11170889 PMID:21681106 |
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NCBI chr20:12,127,570...12,165,165
Ensembl chr20:12,127,570...12,165,165
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Pcbp3 |
poly(rC) binding protein 3 |
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ISO |
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 |
ClinVar |
PMID:11170889 PMID:21681106 |
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NCBI chr20:11,635,579...11,877,721
Ensembl chr20:11,678,269...11,878,210
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Pcnt |
pericentrin |
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ISO |
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 |
ClinVar |
PMID:11170889 PMID:21681106 |
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NCBI chr20:12,189,767...12,278,179
Ensembl chr20:12,191,648...12,278,710
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Pofut2 |
protein O-fucosyltransferase 2 |
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ISO |
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 |
ClinVar |
PMID:11170889 PMID:21681106 |
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NCBI chr20:11,367,073...11,377,788
Ensembl chr20:11,367,096...11,377,743
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Prmt2 |
protein arginine methyltransferase 2 |
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ISO |
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 |
ClinVar |
PMID:11170889 PMID:21681106 |
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NCBI chr20:12,394,748...12,420,643
Ensembl chr20:12,394,798...12,420,643
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S100b |
S100 calcium binding protein B |
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ISO |
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 |
ClinVar |
PMID:11170889 PMID:21681106 |
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NCBI chr20:12,372,345...12,381,159
Ensembl chr20:12,372,881...12,394,743
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Slc19a1 |
solute carrier family 19 member 1 |
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ISO |
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 |
ClinVar |
PMID:11170889 PMID:21681106 |
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NCBI chr20:11,583,928...11,601,959
Ensembl chr20:11,584,411...11,601,972
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Slx9 |
SLX9 ribosome biogenesis factor |
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ISO |
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 |
ClinVar |
PMID:11170889 PMID:21681106 |
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NCBI chr20:11,114,632...11,147,532
Ensembl chr20:11,114,589...11,147,521
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Spatc1l |
spermatogenesis and centriole associated 1-like |
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ISO |
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 |
ClinVar |
PMID:11170889 PMID:21681106 |
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NCBI chr20:12,074,040...12,083,873
Ensembl chr20:12,074,047...12,083,301
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Ybey |
ybeY metalloendoribonuclease |
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ISO |
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 |
ClinVar |
PMID:11170889 PMID:21681106 |
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NCBI chr20:12,165,192...12,174,713
Ensembl chr20:12,165,237...12,174,713
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Actb |
actin, beta |
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ISO |
ClinVar Annotator: match by term: Baraitser-Winter syndrome | ClinVar Annotator: match by term: Cerebrofrontofacial syndrome |
ClinVar |
PMID:1415343 PMID:2786228 PMID:9714430 PMID:10327243 PMID:12325076 PMID:16685646 PMID:19252504 PMID:22366783 PMID:23756437 PMID:24033266 PMID:25052316 PMID:25255767 PMID:25741868 PMID:26467025 PMID:26583190 PMID:27862284 PMID:28347698 PMID:28487785 PMID:28492532 PMID:28849312 PMID:29788902 PMID:30315159 PMID:31970217 PMID:32170967 PMID:33446253 PMID:35005077 More...
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NCBI chr12:16,776,664...16,779,634
Ensembl chr12:11,663,109...11,672,877
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Actg1 |
actin, gamma 1 |
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ISO |
ClinVar Annotator: match by term: Baraitser-Winter syndrome |
ClinVar |
PMID:31231230 PMID:32028042 |
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NCBI chr10:106,118,106...106,120,951
Ensembl chr10:105,619,737...105,624,232 Ensembl chr 3:105,619,737...105,624,232
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Actb |
actin, beta |
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ISO |
ClinVar Annotator: match by term: ACTB-related BAFopathy | ClinVar Annotator: match by term: Baraitser-Winter syndrome 1 | ClinVar Annotator: match by term: Iris coloboma with ptosis, hypertelorism, and mental retardation |
OMIM ClinVar |
PMID:1415343 PMID:2786228 PMID:3445035 PMID:9536098 PMID:9714430 PMID:10327243 PMID:10411937 PMID:10928857 PMID:11311002 PMID:12325076 PMID:16685646 PMID:17576681 PMID:18414213 PMID:19252504 PMID:22366783 PMID:22495914 PMID:23649928 PMID:23756437 PMID:24033266 PMID:24121792 PMID:25052316 PMID:25156961 PMID:25255767 PMID:25640679 PMID:25741868 PMID:25979418 PMID:26275891 PMID:26297194 PMID:26467025 PMID:26583190 PMID:26713879 PMID:26795593 PMID:27633570 PMID:27862284 PMID:27866048 PMID:27868373 PMID:28128450 PMID:28347698 PMID:28487785 PMID:28492532 PMID:28849312 PMID:28991257 PMID:29220674 PMID:29788902 PMID:30315159 PMID:30733661 PMID:31625567 PMID:31898838 PMID:31970217 PMID:32170967 PMID:32368696 PMID:32860008 PMID:32901917 PMID:33446253 PMID:33619735 PMID:33710394 PMID:34970864 PMID:35005077 PMID:35182466 PMID:35313204 PMID:35322241 PMID:35401677 PMID:36474027 PMID:37086329 More...
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NCBI chr12:16,776,664...16,779,634
Ensembl chr12:11,663,109...11,672,877
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Actg1 |
actin, gamma 1 |
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ISO |
ClinVar Annotator: match by term: CEREBROOCULOFACIAL LYMPHATIC SYNDROME |
ClinVar |
PMID:31231230 PMID:32028042 |
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NCBI chr10:106,118,106...106,120,951
Ensembl chr10:105,619,737...105,624,232 Ensembl chr 3:105,619,737...105,624,232
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Ap5z1 |
adaptor related protein complex 5 subunit zeta 1 |
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ISO |
ClinVar Annotator: match by term: Baraitser-Winter syndrome 1 |
ClinVar |
PMID:27633570 PMID:28128450 PMID:28492532 PMID:31898838 |
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NCBI chr12:12,093,834...12,109,043
Ensembl chr12:12,093,834...12,108,511
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G |
Fbxl18 |
F-box and leucine-rich repeat protein 18 |
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ISO |
ClinVar Annotator: match by term: Baraitser-Winter syndrome 1 |
ClinVar |
PMID:27633570 PMID:28128450 PMID:28492532 PMID:31898838 |
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NCBI chr12:11,674,538...11,701,317
Ensembl chr12:11,676,115...11,699,181
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G |
Fscn1 |
fascin actin-bundling protein 1 |
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ISO |
ClinVar Annotator: match by term: Baraitser-Winter syndrome 1 |
ClinVar |
PMID:27633570 PMID:28128450 PMID:28492532 PMID:31898838 |
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NCBI chr12:16,710,601...16,723,734
Ensembl chr12:11,597,048...11,610,211
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Mmd2 |
monocyte to macrophage differentiation-associated 2 |
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ISO |
ClinVar Annotator: match by term: Baraitser-Winter syndrome 1 |
ClinVar |
PMID:27633570 PMID:28128450 PMID:28492532 PMID:31898838 |
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NCBI chr12:11,962,733...12,009,776
Ensembl chr12:11,962,757...12,009,773
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Papolb |
poly(A) polymerase beta |
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ISO |
ClinVar Annotator: match by term: Baraitser-Winter syndrome 1 |
ClinVar |
PMID:27633570 PMID:28128450 PMID:28492532 PMID:31898838 |
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NCBI chr12:12,044,275...12,046,621
Ensembl chr12:12,044,480...12,046,656
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Radil |
Rap associating with DIL domain |
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ISO |
ClinVar Annotator: match by term: Baraitser-Winter syndrome 1 |
ClinVar |
PMID:27633570 PMID:28128450 PMID:28492532 PMID:31898838 |
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NCBI chr12:12,024,395...12,088,540
Ensembl chr12:12,024,395...12,088,540
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Rbak |
RB-associated KRAB zinc finger |
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ISO |
ClinVar Annotator: match by term: Baraitser-Winter syndrome 1 |
ClinVar |
PMID:27633570 PMID:28128450 PMID:28492532 PMID:31898838 |
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NCBI chr12:11,375,314...11,388,937
Ensembl chr12:11,375,318...11,388,934
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Rnf216 |
ring finger protein 216 |
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ISO |
ClinVar Annotator: match by term: Baraitser-Winter syndrome 1 |
ClinVar |
PMID:27633570 PMID:28128450 PMID:28492532 PMID:31898838 |
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NCBI chr12:16,568,327...16,689,868
Ensembl chr12:11,454,797...11,576,304
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Slc29a4 |
solute carrier family 29 member 4 |
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ISO |
ClinVar Annotator: match by term: Baraitser-Winter syndrome 1 |
ClinVar |
PMID:27633570 PMID:28128450 PMID:28492532 PMID:31898838 |
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NCBI chr12:11,853,540...11,884,660
Ensembl chr12:11,853,540...11,874,834
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G |
Tnrc18 |
trinucleotide repeat containing 18 |
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ISO |
ClinVar Annotator: match by term: Baraitser-Winter syndrome 1 |
ClinVar |
PMID:27633570 PMID:28128450 PMID:28492532 PMID:31898838 |
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NCBI chr12:11,755,394...11,851,717
Ensembl chr12:11,755,392...11,851,384
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G |
Wipi2 |
WD repeat domain, phosphoinositide interacting 2 |
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ISO |
ClinVar Annotator: match by term: Baraitser-Winter syndrome 1 |
ClinVar |
PMID:27633570 PMID:28128450 PMID:28492532 PMID:31898838 |
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NCBI chr12:17,024,876...17,053,306
Ensembl chr12:11,911,337...11,939,794
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G |
Actg1 |
actin, gamma 1 |
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ISO |
ClinVar Annotator: match by term: ACTG1-related condition | ClinVar Annotator: match by term: Baraitser-Winter Syndrome 2 | ClinVar Annotator: match by term: Baraitser-winter syndrome 2 |
OMIM ClinVar |
PMID:3351890 PMID:9536098 PMID:13680526 PMID:14684684 PMID:16773128 PMID:17576681 PMID:18414213 PMID:19419963 PMID:19548389 PMID:22366783 PMID:24033266 PMID:25052316 PMID:25741868 PMID:26188271 PMID:26467025 PMID:27240540 PMID:27625340 PMID:28000701 PMID:28492532 PMID:29196752 PMID:29357087 PMID:29620237 PMID:29671837 PMID:29758562 PMID:29986705 PMID:30008475 PMID:30143558 PMID:30622556 PMID:31116477 PMID:32341388 PMID:33584783 PMID:33604570 PMID:34448047 More...
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NCBI chr10:106,118,106...106,120,951
Ensembl chr10:105,619,737...105,624,232 Ensembl chr 3:105,619,737...105,624,232
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G |
Ripk4 |
receptor-interacting serine-threonine kinase 4 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Bartsocas-Papas syndrome 1 | ClinVar Annotator: match by term: MULTIPLE PTERYGIUM SYNDROME, ASLAN TYPE |
OMIM CTD ClinVar |
PMID:10925380 PMID:15264293 PMID:22197488 PMID:22197489 PMID:23074676 PMID:23610050 PMID:25326635 PMID:25741868 PMID:26752647 PMID:28492532 PMID:28940926 More...
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NCBI chr11:37,122,555...37,144,799
Ensembl chr11:37,122,565...37,144,799
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G |
Chuk |
component of inhibitor of nuclear factor kappa B kinase complex |
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ISO |
ClinVar Annotator: match by term: Bartsocas-Papas syndrome 2 |
OMIM ClinVar |
PMID:25691407 |
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NCBI chr 1:252,908,748...252,944,273
Ensembl chr 1:242,959,760...242,995,065
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G |
Med25 |
mediator complex subunit 25 |
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ISO |
ClinVar Annotator: match by term: Basel-Vanagaite-Smirin-Yosef syndrome |
OMIM ClinVar |
PMID:25488817 PMID:25527630 PMID:25741868 PMID:25792360 PMID:28170084 PMID:28492532 PMID:30039206 PMID:32324310 PMID:32371413 PMID:32376792 PMID:32816121 PMID:37091313 More...
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NCBI chr 1:95,359,961...95,375,827
Ensembl chr 1:95,360,284...95,375,877
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G |
Arid1b |
AT-rich interaction domain 1B |
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ISO |
ClinVar Annotator: match by term: Blepharophimosis |
ClinVar |
PMID:23806086 PMID:24088041 PMID:24674232 PMID:25741868 |
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NCBI chr 1:47,973,199...48,328,793
Ensembl chr 1:45,563,623...45,923,493
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G |
Foxl2 |
forkhead box L2 |
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ISO |
ClinVar Annotator: match by term: Blepharophimosis |
ClinVar |
PMID:25741868 |
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NCBI chr 8:108,392,466...108,395,553
Ensembl chr 8:99,513,303...99,514,427
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G |
Huwe1 |
HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 |
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ISO |
ClinVar Annotator: match by term: Blepharophimosis |
ClinVar |
PMID:25741868 |
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NCBI chr X:24,350,708...24,480,798
Ensembl chr X:20,873,795...21,001,262
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G |
Kat6b |
lysine acetyltransferase 6B |
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ISO |
ClinVar Annotator: match by term: Blepharophimosis |
ClinVar |
PMID:25741868 |
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NCBI chr15:2,688,535...2,861,443
Ensembl chr15:2,639,200...2,812,316
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G |
Smarca2 |
SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 |
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ISO |
ClinVar Annotator: match by term: Blepharophimosis |
ClinVar |
PMID:25741868 |
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NCBI chr 1:233,617,277...233,784,908
Ensembl chr 1:224,191,125...224,358,684
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G |
Snx9 |
sorting nexin 9 |
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ISO |
ClinVar Annotator: match by term: Blepharophimosis |
ClinVar |
PMID:24674232 |
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NCBI chr 1:46,424,897...46,510,096
Ensembl chr 1:46,423,553...46,509,036
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G |
Tmem242 |
transmembrane protein 242 |
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ISO |
ClinVar Annotator: match by term: Blepharophimosis |
ClinVar |
PMID:24674232 |
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NCBI chr 1:48,397,865...48,424,639
Ensembl chr 1:45,992,713...46,019,626
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G |
Xirp2 |
xin actin-binding repeat containing 2 |
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ISO |
ClinVar Annotator: match by term: Blepharophimosis |
ClinVar |
PMID:25741868 |
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NCBI chr 3:72,534,175...72,621,056
Ensembl chr 3:51,870,092...52,213,091
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G |
Zdhhc14 |
zinc finger DHHC-type palmitoyltransferase 14 |
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ISO |
ClinVar Annotator: match by term: Blepharophimosis |
ClinVar |
PMID:24674232 |
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NCBI chr 1:48,473,860...48,746,201
Ensembl chr 1:46,069,127...46,330,488
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G |
Foxl2 |
forkhead box L2 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE I | ClinVar Annotator: match by term: Blepharophimosis, ptosis, epicanthus inversus type 1 |
CTD ClinVar |
PMID:11175783 PMID:11468277 PMID:11776388 PMID:12400065 PMID:12529855 PMID:12567411 PMID:12630957 PMID:12938087 PMID:16219626 PMID:17089161 PMID:17277738 PMID:18372316 PMID:20429427 PMID:21325395 PMID:21889601 PMID:25741868 PMID:28492532 PMID:28849110 PMID:30029625 PMID:30198434 PMID:31048069 PMID:31077882 PMID:33538981 More...
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NCBI chr 8:108,392,466...108,395,553
Ensembl chr 8:99,513,303...99,514,427
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G |
Foxl2 |
forkhead box L2 |
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ISO |
ClinVar Annotator: match by term: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE II | ClinVar Annotator: match by term: Blepharophimosis, ptosis, and epicanthus inversus without premature ovarian failure |
ClinVar |
PMID:11175783 PMID:11468277 PMID:11776388 PMID:12400065 PMID:12529855 PMID:12630957 PMID:12938087 PMID:16283882 PMID:17277738 PMID:18372316 PMID:18484667 PMID:21325395 PMID:25741868 PMID:28492532 PMID:31077882 PMID:33538981 More...
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NCBI chr 8:108,392,466...108,395,553
Ensembl chr 8:99,513,303...99,514,427
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Copb2 |
COPI coat complex subunit beta 2 |
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ISO |
ClinVar Annotator: match by term: Blepharophimosis, ptosis, and epicanthus inversus syndrome |
ClinVar |
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NCBI chr 8:99,161,324...99,183,452
Ensembl chr 8:99,161,350...99,185,197
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G |
Foxl2 |
forkhead box L2 |
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ISO ISS |
DNA:mutations:multiple (human) ClinVar Annotator: match by term: Blepharophimosis, ptosis, and epicanthus inversus | ClinVar Annotator: match by term: Blepharophimosis, ptosis, and epicanthus inversus syndrome | ClinVar Annotator: match by term: FOXL2-related condition OMIM:110100 CTD Direct Evidence: marker/mechanism |
ClinVar MouseDO CTD OMIM RGD |
PMID:11175783 PMID:11468277 PMID:11776388 PMID:12149404 PMID:12161610 PMID:12400065 PMID:12529855 PMID:12630957 PMID:12938087 PMID:16283882 PMID:17277738 PMID:18372316 PMID:18484667 PMID:18635577 PMID:18642388 PMID:19010791 PMID:19429596 PMID:19515849 PMID:21325395 PMID:22159675 PMID:22312189 PMID:23441113 PMID:25741868 PMID:26323275 PMID:27914838 PMID:28492532 PMID:28849110 PMID:30029625 PMID:30198434 PMID:31048069 PMID:31077882 PMID:31366388 PMID:32454486 PMID:33538981 PMID:33796131 PMID:36338666 PMID:39033378 PMID:11175783 More...
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RGD:1598958 |
NCBI chr 8:108,392,466...108,395,553
Ensembl chr 8:99,513,303...99,514,427
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G |
Mrps22 |
mitochondrial ribosomal protein S22 |
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ISO |
ClinVar Annotator: match by term: Blepharophimosis, ptosis, and epicanthus inversus syndrome |
ClinVar |
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NCBI chr 8:108,063,468...108,076,638
Ensembl chr 8:99,184,109...99,197,291
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Smarca2 |
SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 |
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ISO |
ClinVar Annotator: match by term: BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME | ClinVar Annotator: match by term: Blepharophimosis-impaired intellectual development syndrome |
OMIM ClinVar |
PMID:22366787 PMID:23929686 PMID:24090879 PMID:25533962 PMID:25741868 PMID:28191890 PMID:28333917 PMID:28492532 PMID:28628100 PMID:32694869 More...
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NCBI chr 1:233,617,277...233,784,908
Ensembl chr 1:224,191,125...224,358,684
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Zfp469 |
zinc finger protein 469 |
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ISO |
ClinVar Annotator: match by term: Brittle cornea syndrome |
ClinVar |
PMID:25741868 PMID:28492532 PMID:28518168 PMID:29228253 PMID:32461654 |
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NCBI chr19:67,190,901...67,232,569
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Prdm5 |
PR/SET domain 5 |
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ISO |
ClinVar Annotator: match by term: Brittle cornea syndrome 1 | ClinVar Annotator: match by term: Corneal fragility, keratoglobus, blue sclerae, joint hyperextensibility |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 4:96,405,492...96,567,647
Ensembl chr 4:95,075,768...95,238,301
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G |
Zfp469 |
zinc finger protein 469 |
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ISO ISS |
ClinVar Annotator: match by term: Brittle cornea syndrome 1 | ClinVar Annotator: match by term: Corneal fragility, keratoglobus, blue sclerae, joint hyperextensibility | ClinVar Annotator: match by term: DYSGENESIS MESODERMALIS CORNEAE ET SCLERAE | ClinVar Annotator: match by term: EDS6B | ClinVar Annotator: match by term: ZNF469-related condition OMIM:229200 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:5755738 PMID:7387950 PMID:18452888 PMID:19661234 PMID:20938016 PMID:23642083 PMID:23680354 PMID:24082139 PMID:24895405 PMID:25097247 PMID:25564447 PMID:25741868 PMID:28377322 PMID:28484309 PMID:28492532 PMID:28518168 PMID:28622062 PMID:29228253 PMID:31107761 PMID:32461654 PMID:32671420 PMID:33739556 PMID:33747040 PMID:33816482 PMID:34368841 More...
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NCBI chr19:67,190,901...67,232,569
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G |
Prdm5 |
PR/SET domain 5 |
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ISO |
ClinVar Annotator: match by term: Brittle cornea syndrome 2 | ClinVar Annotator: match by term: PRDM5-related condition |
OMIM ClinVar |
PMID:8458232 PMID:9536098 PMID:17576681 PMID:21664999 PMID:22122778 PMID:25741868 PMID:26395458 PMID:28492532 PMID:31829210 PMID:33739556 PMID:34008892 More...
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NCBI chr 4:96,405,492...96,567,647
Ensembl chr 4:95,075,768...95,238,301
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G |
Atl2 |
atlastin GTPase 2 |
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ISO |
ClinVar Annotator: match by term: Congenital glaucoma |
ClinVar |
PMID:9097971 PMID:9497261 PMID:19234632 PMID:28492532 PMID:31251480 |
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NCBI chr 6:20,891,220...20,932,644
Ensembl chr 6:15,139,044...15,180,421
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G |
Cpamd8 |
C3 and PZP-like, alpha-2-macroglobulin domain containing 8 |
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ISO |
ClinVar Annotator: match by term: Glaucoma 3, primary congenital, A |
ClinVar |
PMID:25741868 |
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NCBI chr 4:155,332,827...155,413,098
Ensembl chr 4:155,332,827...155,413,117
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G |
Cyp1b1 |
cytochrome P450, family 1, subfamily b, polypeptide 1 |
susceptibility |
ISO ISS |
ClinVar Annotator: match by term: Congenital glaucoma | ClinVar Annotator: match by term: Glaucoma 3, primary congenital, A | ClinVar Annotator: match by term: Glaucoma, primary open angle, juvenile-onset OMIM:231300 CTD Direct Evidence: marker/mechanism DNA:missense mutation:cds:p.A388T (human) DNA:missense mutation, deletion:exon:p.R390H, g.4633delC (human) DNA:duplication:exon:g.1546-1555dupTCATGCCACC (human) DNA:missense mutations:exons:p.G61E, p.R368H, p.D374N (human) DNA:missense mutations:exons:p.G61E, p.R469W, p.R523K (human) DNA:deletion, snp:exons:g.4339delG, p.G61E (human) DNA:snp:cds:p.E387K (human) DNA:polymorphisms:multiple (human) |
OMIM ClinVar MouseDO CTD RGD |
PMID:2782041 PMID:9097971 PMID:9463332 PMID:9497261 PMID:9536098 PMID:10227395 PMID:10426814 PMID:10655546 PMID:10739169 PMID:10910054 PMID:11184479 PMID:11403040 PMID:11527932 PMID:11558822 PMID:11774072 PMID:11854439 PMID:11980847 PMID:12036985 PMID:12372064 PMID:12525557 PMID:12598442 PMID:14507861 PMID:14635112 PMID:15037581 PMID:15255109 PMID:15342693 PMID:15621878 PMID:16199547 PMID:16384942 PMID:16688110 PMID:16735991 PMID:16735994 PMID:16862072 PMID:17164573 PMID:17224759 PMID:17363580 PMID:17563717 PMID:17576681 PMID:17591938 PMID:17718864 PMID:17893647 PMID:18055790 PMID:18070520 PMID:18227148 PMID:18414103 PMID:18470941 PMID:18537981 PMID:18622259 PMID:18852424 PMID:19195637 PMID:19204079 PMID:19234632 PMID:19236111 PMID:19247456 PMID:19528825 PMID:19536304 PMID:19643970 PMID:19744731 PMID:19793111 PMID:19807744 PMID:20057908 PMID:20151268 PMID:20198978 PMID:20664688 PMID:20827438 PMID:21081970 PMID:21168818 PMID:21306220 PMID:21572728 PMID:21600657 PMID:21815720 PMID:21850185 PMID:21854771 PMID:22004014 PMID:22128238 PMID:22878448 PMID:22942166 PMID:23028769 PMID:23218183 PMID:23218701 PMID:23922489 PMID:24033266 PMID:24123366 PMID:24227805 PMID:24281366 PMID:24940937 PMID:25018621 PMID:25091052 PMID:25109919 PMID:25261878 PMID:25333069 PMID:25527694 PMID:25580891 PMID:25646030 PMID:25741868 PMID:25826643 PMID:25950505 PMID:25952714 PMID:25978063 PMID:26550445 PMID:26550974 PMID:26997785 PMID:27060699 PMID:27243976 PMID:27268095 PMID:27270415 PMID:27272408 PMID:27408750 PMID:27508083 PMID:27535533 PMID:27777502 PMID:27820421 PMID:28192799 PMID:28384041 PMID:28425089 PMID:28448622 PMID:28492532 PMID:28620713 PMID:28644236 PMID:29142762 PMID:29556725 PMID:30108387 PMID:30484747 PMID:30520782 PMID:30653986 PMID:30662834 PMID:30788381 PMID:30820150 PMID:31024815 PMID:31251480 PMID:31453292 PMID:32224865 PMID:32476818 PMID:32499604 PMID:32510024 PMID:32830442 PMID:32832252 PMID:32860008 PMID:32883240 PMID:34956319 PMID:35085548 PMID:35170016 PMID:36076309 PMID:36239105 PMID:37788597 PMID:38219857 PMID:38755526 PMID:16490498 PMID:19247456 PMID:12567107 PMID:19597567 PMID:19593207 PMID:20664688 PMID:10227395 PMID:23922489 PMID:12624268 More...
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RGD:7800719, RGD:7800711, RGD:7800707, RGD:7800689, RGD:7800688, RGD:7800680, RGD:7800670, RGD:7800657, RGD:734869 |
NCBI chr 6:21,093,927...21,103,091
Ensembl chr 6:15,342,344...15,350,917
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Foxc1 |
forkhead box C1 |
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ISS |
OMIM:231300 |
MouseDO |
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NCBI chr17:32,840,119...32,844,100
Ensembl chr17:32,633,142...32,634,803
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G |
Galm |
galactose mutarotase |
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ISO |
ClinVar Annotator: match by term: Congenital glaucoma |
ClinVar |
PMID:9097971 PMID:9497261 PMID:19234632 PMID:28492532 PMID:31251480 |
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NCBI chr 6:20,589,775...20,641,516
Ensembl chr 6:14,837,548...14,889,310
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G |
Hnrnpll |
heterogeneous nuclear ribonucleoprotein L-like |
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ISO |
ClinVar Annotator: match by term: Congenital glaucoma |
ClinVar |
PMID:9097971 PMID:9497261 PMID:19234632 PMID:28492532 PMID:31251480 |
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NCBI chr 6:20,720,013...20,752,803
Ensembl chr 6:14,970,057...14,999,745
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G |
Ltbp2 |
latent transforming growth factor beta binding protein 2 |
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ISO |
ClinVar Annotator: match by term: Glaucoma 3, primary congenital, A |
ClinVar |
PMID:19656777 |
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NCBI chr 6:110,161,029...110,261,586
Ensembl chr 6:104,429,947...104,526,208
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Myoc |
myocilin |
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ISO |
ClinVar Annotator: match by term: Glaucoma 3, primary congenital, a, digenic |
ClinVar |
PMID:12447164 PMID:15025728 PMID:15723004 PMID:15733270 PMID:16288197 PMID:16466712 PMID:17563717 PMID:22194650 PMID:22736945 PMID:25741868 PMID:28492532 PMID:35196929 More...
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NCBI chr13:77,509,963...77,520,361
Ensembl chr13:74,976,730...74,987,127
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Pxdn |
peroxidasin |
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ISO |
ClinVar Annotator: match by term: Glaucoma 3, primary congenital, A |
ClinVar |
PMID:25741868 |
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NCBI chr 6:52,308,347...52,385,943
Ensembl chr 6:46,580,761...46,658,345
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Tyr |
tyrosinase |
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ISS |
OMIM:231300 |
MouseDO |
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NCBI chr 1:150,527,687...150,622,857
Ensembl chr 1:141,115,036...141,210,207
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G |
Nhs |
NHS actin remodeling regulator |
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ISO |
ClinVar Annotator: match by term: Cataract 40 | ClinVar Annotator: match by term: Cataract 40, X-linked CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:14564667 PMID:16736028 PMID:18949062 PMID:19414485 PMID:23757202 PMID:24968223 PMID:25741868 PMID:28492532 More...
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NCBI chr X:36,185,067...36,524,711
Ensembl chr X:32,552,026...32,889,992
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Wdr45 |
WD repeat domain 45 |
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ISO |
ClinVar Annotator: match by term: Cerebral-cerebellar-coloboma syndrome, X-linked |
ClinVar |
PMID:23176820 PMID:24368176 PMID:24621584 PMID:25326635 PMID:25741868 PMID:25744623 PMID:26609730 PMID:26790960 PMID:27030146 PMID:27652284 PMID:28492532 PMID:28554332 PMID:29389947 More...
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NCBI chr X:17,448,195...17,454,117
Ensembl chr X:14,776,293...14,782,202
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Pigl |
phosphatidylinositol glycan anchor biosynthesis, class L |
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ISO |
ClinVar Annotator: match by term: CHIME syndrome | ClinVar Annotator: match by term: Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Intellectual Disability, and Ear Anomalies (CHIME) Syndrome | ClinVar Annotator: match by term: PIGL-related condition CTD Direct Evidence: marker/mechanism DNA:missense mutation:CDS:c.500T>C (p.L167P) (human) |
OMIM ClinVar CTD RGD |
PMID:3041916 PMID:7666399 PMID:8893234 PMID:11438011 PMID:16199547 PMID:18414213 PMID:22444671 PMID:23561846 PMID:24784135 PMID:25250048 PMID:25741868 PMID:28327575 PMID:28371479 PMID:28492532 PMID:29473937 PMID:30023290 PMID:31535386 PMID:35904974 PMID:22444671 More...
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RGD:243048422 |
NCBI chr10:47,142,160...47,199,892
Ensembl chr10:47,141,780...47,200,145
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Hdac6 |
histone deacetylase 6 |
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ISO |
ClinVar Annotator: match by term: HDAC6-related condition | ClinVar Annotator: match by term: X-linked dominant chondrodysplasia, Chassaing-Lacombe type |
OMIM ClinVar |
PMID:16001442 PMID:20181727 PMID:25741868 PMID:28492532 |
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NCBI chr X:17,222,538...17,244,373
Ensembl chr X:14,551,044...14,572,441
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G |
Ahi1 |
Abelson helper integration site 1 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome with ocular defect |
ClinVar |
PMID:15322546 PMID:16453322 PMID:18054307 PMID:21623382 PMID:21937992 PMID:25525159 PMID:25741868 PMID:26092869 PMID:28442542 PMID:28492532 PMID:29186038 More...
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NCBI chr 1:17,580,859...17,711,775
Ensembl chr 1:15,762,462...15,891,041
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Ofd1 |
Ofd1 centriole and centriolar satellite protein |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome with congenital hepatic fibrosis |
ClinVar |
PMID:16783569 PMID:18546297 PMID:23033313 PMID:25741868 PMID:27081566 PMID:28492532 PMID:29193896 PMID:31373179 More...
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NCBI chr X:28,015,347...28,056,115
Ensembl chr X:28,015,347...28,056,110
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Tmem67 |
transmembrane protein 67 |
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ISO |
DNA:missense mutations: :multiple CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:19058225 PMID:19574260 |
RGD:11535944, RGD:11535946 |
NCBI chr 5:30,333,793...30,386,702
Ensembl chr 5:25,536,458...25,589,334
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G |
Cc2d2a |
coiled-coil and C2 domain containing 2A |
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ISO |
ClinVar Annotator: match by term: COACH syndrome 1 |
ClinVar |
PMID:18414213 PMID:18950740 PMID:19777577 PMID:21068128 PMID:22241855 PMID:22425360 PMID:23012439 PMID:24706459 PMID:25741868 PMID:26092869 PMID:26477546 PMID:26485645 PMID:26673778 PMID:26729329 PMID:27081510 PMID:27082236 PMID:28492532 PMID:28518168 PMID:29146704 PMID:29620724 PMID:30609409 PMID:31618753 PMID:31964843 PMID:32461654 PMID:32488064 PMID:33084218 PMID:34426522 PMID:34448047 PMID:34758253 PMID:36788019 More...
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NCBI chr14:71,563,835...71,648,352
Ensembl chr14:67,351,353...67,435,949
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G |
Rpgrip1l |
Rpgrip1-like |
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ISO |
ClinVar Annotator: match by term: COACH syndrome 1 |
ClinVar |
PMID:17558407 PMID:17558409 PMID:19430481 PMID:21866095 PMID:25741868 PMID:26092869 PMID:28492532 PMID:28771248 PMID:31390572 PMID:32483926 More...
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NCBI chr19:15,692,189...15,785,083
Ensembl chr19:15,692,150...15,785,083
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G |
Tmem67 |
transmembrane protein 67 |
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ISO |
ClinVar Annotator: match by term: COACH syndrome 1 |
OMIM ClinVar |
PMID:2929661 PMID:8862632 PMID:9375913 PMID:9536098 PMID:12368986 PMID:17160906 PMID:17377820 PMID:17397051 PMID:17576681 PMID:18327255 PMID:18414213 PMID:19058225 PMID:19466712 PMID:19508969 PMID:19540516 PMID:19574260 PMID:20232449 PMID:20607301 PMID:21068128 PMID:21633164 PMID:21866095 PMID:22700954 PMID:23351400 PMID:23559409 PMID:24033266 PMID:25326635 PMID:25412400 PMID:25741868 PMID:25920555 PMID:26035863 PMID:26092869 PMID:26467025 PMID:26729329 PMID:27434533 PMID:27491411 PMID:28125082 PMID:28431631 PMID:28492532 PMID:28497568 PMID:28680603 PMID:28719906 PMID:28771248 PMID:28973083 PMID:29127258 PMID:29146704 PMID:29568536 PMID:29891882 PMID:29974258 PMID:30029678 PMID:30476936 PMID:32939031 PMID:34675960 PMID:36617405 More...
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NCBI chr 5:30,333,793...30,386,702
Ensembl chr 5:25,536,458...25,589,334
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Cc2d2a |
coiled-coil and C2 domain containing 2A |
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ISO |
ClinVar Annotator: match by term: COACH syndrome 2 |
OMIM ClinVar |
PMID:18950740 PMID:19466712 PMID:19574260 PMID:19777577 PMID:22241855 PMID:22246503 PMID:25741868 PMID:26092869 PMID:27081510 PMID:27082236 PMID:28125082 PMID:28492532 PMID:31964843 PMID:32488064 PMID:34194672 More...
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NCBI chr14:71,563,835...71,648,352
Ensembl chr14:67,351,353...67,435,949
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G |
Rpgrip1l |
Rpgrip1-like |
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ISO |
ClinVar Annotator: match by term: COACH syndrome 3 |
OMIM ClinVar |
PMID:9536098 PMID:17558407 PMID:17558409 PMID:17576681 PMID:17960139 PMID:18565097 PMID:19430481 PMID:19574260 PMID:21866095 PMID:25741868 PMID:26092869 PMID:27434533 PMID:28492532 PMID:28771248 PMID:31390572 PMID:32483926 More...
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NCBI chr19:15,692,189...15,785,083
Ensembl chr19:15,692,150...15,785,083
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G |
Lonp1 |
lon peptidase 1, mitochondrial |
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ISO |
ClinVar Annotator: match by term: CEREBRAL, OCULAR, DENTAL, AURICULAR, AND SKELETAL ANOMALIES SYNDROME | ClinVar Annotator: match by term: CODAS syndrome | ClinVar Annotator: match by term: Cerebral, ocular, dental, auricular, and skeletal syndrome | ClinVar Annotator: match by term: LONP1-related condition CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:1887855 PMID:5574826 PMID:9536098 PMID:17576681 PMID:25574826 PMID:25741868 PMID:25741869 PMID:25808063 PMID:26034137 PMID:27878435 PMID:28492532 PMID:29408517 PMID:30304514 PMID:31636596 PMID:31923470 PMID:34547244 More...
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NCBI chr 9:1,534,581...1,546,908
Ensembl chr 9:1,447,447...1,459,771
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G |
P4hb |
prolyl 4-hydroxylase subunit beta |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Bone fragility with craniosynostosis, ocular proptosis, hydrocephalus, and distinctive facial features | ClinVar Annotator: match by term: Cole-Carpenter syndrome |
CTD ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr10:106,335,300...106,346,911
Ensembl chr10:105,836,982...105,848,500
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G |
Sec24d |
SEC24 homolog D, COPII coat complex component |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr 2:214,103,138...214,211,155
Ensembl chr 2:211,418,623...211,526,587
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G |
P4hb |
prolyl 4-hydroxylase subunit beta |
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ISO |
ClinVar Annotator: match by term: Cole-Carpenter syndrome 1 | ClinVar Annotator: match by term: P4HB-related condition |
OMIM ClinVar |
PMID:25683117 PMID:25741868 PMID:28492532 PMID:29263160 PMID:30063094 |
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NCBI chr10:106,335,300...106,346,911
Ensembl chr10:105,836,982...105,848,500
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G |
Sec24d |
SEC24 homolog D, COPII coat complex component |
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ISO |
ClinVar Annotator: match by term: Cole-Carpenter syndrome 2 | ClinVar Annotator: match by term: SEC24D-related condition |
OMIM ClinVar |
PMID:25683121 PMID:25741868 PMID:26467156 PMID:27942778 PMID:28492532 PMID:30462379 More...
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NCBI chr 2:214,103,138...214,211,155
Ensembl chr 2:211,418,623...211,526,587
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Abcb6 |
ATP binding cassette subfamily B member 6 |
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ISO |
ClinVar Annotator: match by term: Congenital ocular coloboma | ClinVar Annotator: match by term: ocular coloboma |
ClinVar |
PMID:2998465 PMID:15142123 PMID:23180570 PMID:24281366 PMID:25741868 PMID:27151991 PMID:28492532 PMID:28971506 PMID:30187933 PMID:34201899 More...
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NCBI chr 9:84,117,222...84,125,939
Ensembl chr 9:76,668,554...76,676,924
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Actb |
actin, beta |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22366783 |
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NCBI chr12:16,776,664...16,779,634
Ensembl chr12:11,663,109...11,672,877
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G |
Actg1 |
actin, gamma 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22366783 |
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NCBI chr10:106,118,106...106,120,951
Ensembl chr10:105,619,737...105,624,232 Ensembl chr 3:105,619,737...105,624,232
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G |
Aldh7a1 |
aldehyde dehydrogenase 7 family, member A1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25004007 |
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NCBI chr18:50,003,242...50,042,193
Ensembl chr18:50,009,934...50,042,193
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G |
Bfsp1 |
beaded filament structural protein 1 |
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ISO |
ClinVar Annotator: match by term: Congenital ocular coloboma |
ClinVar |
PMID:24281366 PMID:28492532 |
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NCBI chr 3:131,195,087...131,252,668
Ensembl chr 3:131,195,087...131,229,337
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G |
Capn15 |
calpain 15 |
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ISO |
ClinVar Annotator: match by term: Congenital ocular coloboma |
ClinVar |
PMID:25741868 |
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NCBI chr10:15,477,311...15,503,913
Ensembl chr10:14,972,800...14,999,508
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Cdk5rap2 |
CDK5 regulatory subunit associated protein 2 |
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ISO |
ClinVar Annotator: match by term: Congenital ocular coloboma |
ClinVar |
PMID:28492532 |
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NCBI chr 5:88,807,402...88,976,005
Ensembl chr 5:83,792,284...83,960,782
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Cdon |
cell adhesion associated, oncogene regulated |
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ISO |
ClinVar Annotator: match by term: Congenital ocular coloboma |
ClinVar |
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NCBI chr 8:42,032,921...42,119,451
Ensembl chr 8:33,806,183...33,859,033
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Cilk1 |
ciliogenesis associated kinase 1 |
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ISO |
ClinVar Annotator: match by term: Congenital ocular coloboma |
ClinVar |
PMID:25741868 |
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NCBI chr 8:87,868,294...87,922,995
Ensembl chr 8:78,984,258...79,042,691
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G |
Cyp1b1 |
cytochrome P450, family 1, subfamily b, polypeptide 1 |
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ISO |
ClinVar Annotator: match by term: Coloboma of eye |
ClinVar |
PMID:9097971 PMID:9497261 PMID:10655546 PMID:11558822 PMID:11774072 PMID:11980847 PMID:14507861 PMID:15037581 PMID:15342693 PMID:16688110 PMID:16735991 PMID:16735994 PMID:17563717 PMID:17591938 PMID:17718864 PMID:17893647 PMID:18470941 PMID:18622259 PMID:18852424 PMID:19204079 PMID:19234632 PMID:19236111 PMID:19536304 PMID:19643970 PMID:19744731 PMID:19793111 PMID:21081970 PMID:21168818 PMID:21854771 PMID:22004014 PMID:23028769 PMID:24033266 PMID:24123366 PMID:24281366 PMID:25091052 PMID:25333069 PMID:25580891 PMID:25741868 PMID:25950505 PMID:25978063 PMID:26550445 PMID:26997785 PMID:27243976 PMID:27408750 PMID:27508083 PMID:27535533 PMID:27777502 PMID:28384041 PMID:28492532 PMID:28620713 PMID:29142762 PMID:29556725 PMID:30108387 PMID:30520782 PMID:30653986 PMID:30788381 PMID:30820150 PMID:32510024 PMID:36239105 PMID:38219857 More...
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NCBI chr 6:21,093,927...21,103,091
Ensembl chr 6:15,342,344...15,350,917
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Fibp |
FGF1 intracellular binding protein |
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ISO |
ClinVar Annotator: match by term: Congenital ocular coloboma |
ClinVar |
PMID:26660953 |
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NCBI chr 1:212,197,216...212,201,732
Ensembl chr 1:202,768,078...202,772,399
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Fzd5 |
frizzled class receptor 5 |
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ISO |
ClinVar Annotator: match by term: Congenital ocular coloboma |
ClinVar |
PMID:25741868 PMID:26908622 PMID:32737437 PMID:36695497 |
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NCBI chr 9:73,606,860...73,614,039
Ensembl chr 9:66,113,112...66,121,457
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G |
Lamb1 |
laminin subunit beta 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18809619 |
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NCBI chr 6:53,562,849...53,630,118
Ensembl chr 6:47,835,525...47,902,585
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G |
Mab21l2 |
mab-21 like 2 |
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ISO |
DNA:missense mutation:cds:c.151 C>G, (p.R51G)(human) |
RGD |
PMID:25719200 |
RGD:11553846 |
NCBI chr 2:174,244,538...174,247,620
Ensembl chr 2:171,946,573...171,949,655
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G |
Nf2 |
NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor |
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ISS |
OMIM:120200 | OMIM:120300 | OMIM:216820 |
MouseDO |
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NCBI chr14:83,850,894...83,934,263
Ensembl chr14:79,627,399...79,710,667
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G |
Pax2 |
paired box 2 |
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ISO |
ClinVar Annotator: match by term: Congenital ocular coloboma |
ClinVar |
PMID:25741868 |
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NCBI chr 1:253,555,447...253,646,623
Ensembl chr 1:243,616,606...243,695,321
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G |
Pax6 |
paired box 6 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Coloboma | ClinVar Annotator: match by term: Coloboma, ocular, autosomal dominant |
CTD ClinVar |
PMID:1251879 PMID:1684738 PMID:1954207 PMID:6988567 PMID:10234503 PMID:11929848 PMID:12634864 PMID:12721955 PMID:14561779 PMID:15846561 PMID:17406642 PMID:18483559 PMID:19876904 PMID:22692063 PMID:25741868 PMID:26130484 PMID:26661695 PMID:28321846 PMID:28492532 PMID:29145603 PMID:29914532 PMID:31700164 PMID:34415986 More...
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NCBI chr 3:112,590,034...112,611,771
Ensembl chr 3:92,135,637...92,157,014
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Rarb |
retinoic acid receptor, beta |
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ISO |
ClinVar Annotator: match by term: Congenital ocular coloboma |
ClinVar |
PMID:25741868 |
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NCBI chr15:10,837,252...11,482,037
Ensembl chr15:8,406,492...9,051,288
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Rbp4 |
retinol binding protein 4 |
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ISO |
ClinVar Annotator: match by term: Congenital ocular coloboma |
ClinVar |
PMID:25741868 PMID:29178648 |
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NCBI chr 1:245,306,349...245,313,551
Ensembl chr 1:235,893,917...235,901,399
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Sall2 |
spalt-like transcription factor 2 |
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ISO |
ClinVar Annotator: match by term: Coloboma, ocular, autosomal recessive | ClinVar Annotator: match by term: SALL2-related condition CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:24412933 PMID:25741868 PMID:28492532 |
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NCBI chr15:27,494,831...27,512,402
Ensembl chr15:25,021,345...25,038,918
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Slbp |
stem-loop histone mRNA binding protein |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30695021 |
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NCBI chr14:81,295,479...81,306,446
Ensembl chr14:77,071,632...77,081,906
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Slc16a12 |
solute carrier family 16, member 12 |
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ISO |
ClinVar Annotator: match by term: Coloboma of eye |
ClinVar |
PMID:24281366 PMID:25741868 PMID:28492532 |
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NCBI chr 1:241,597,165...241,674,821
Ensembl chr 1:232,185,907...232,262,141
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Sox2 |
SRY-box transcription factor 2 |
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ISO |
ClinVar Annotator: match by term: Chorioretinal coloboma |
ClinVar |
PMID:25741868 |
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NCBI chr 2:119,465,131...119,467,542
Ensembl chr 2:117,536,929...117,539,338
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Tmem67 |
transmembrane protein 67 |
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ISO |
associated with Joubert syndrome 6;DNA:mutations:multiple (human) ClinVar Annotator: match by term: Coloboma of eye | ClinVar Annotator: match by term: Congenital ocular coloboma |
ClinVar RGD |
PMID:19466712 PMID:19508969 PMID:19540516 PMID:19574260 PMID:20232449 PMID:20607301 PMID:21068128 PMID:21866095 PMID:23351400 PMID:23559409 PMID:25741868 PMID:26035863 PMID:26092869 PMID:28492532 PMID:30029678 PMID:29146704 More...
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RGD:329901759 |
NCBI chr 5:30,333,793...30,386,702
Ensembl chr 5:25,536,458...25,589,334
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Wdr37 |
WD repeat domain 37 |
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ISO |
ClinVar Annotator: match by term: Coloboma |
ClinVar |
PMID:25741868 PMID:31327510 PMID:31474318 PMID:31491411 |
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NCBI chr17:66,547,425...66,613,841
Ensembl chr17:61,637,258...61,703,677
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Yap1 |
Yes1 associated transcriptional regulator |
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ISO |
ClinVar Annotator: match by term: Congenital ocular coloboma |
ClinVar |
PMID:24462371 |
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NCBI chr 8:13,380,551...13,451,640
Ensembl chr 8:5,095,722...5,167,010
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Dhx37 |
DEAH-box helicase 37 |
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ISO |
ClinVar Annotator: match by term: Coloboma of optic nerve |
ClinVar |
PMID:31256877 |
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NCBI chr12:36,856,119...36,876,245
Ensembl chr12:31,194,859...31,216,802
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Elp4 |
elongator acetyltransferase complex subunit 4 |
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ISO |
ClinVar Annotator: match by term: Coloboma of optic nerve | ClinVar Annotator: match by term: Congenital coloboma of the optic nerve |
ClinVar |
PMID:25741868 |
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NCBI chr 3:112,617,020...112,839,963
Ensembl chr 3:92,162,280...92,385,243
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Pax6 |
paired box 6 |
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ISO |
ClinVar Annotator: match by term: Coloboma of optic nerve | ClinVar Annotator: match by term: Congenital coloboma of the optic nerve CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:10234503 PMID:12634864 PMID:12721955 PMID:18483559 PMID:22692063 PMID:25741868 PMID:26661695 PMID:28321846 PMID:28492532 More...
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NCBI chr 3:112,590,034...112,611,771
Ensembl chr 3:92,135,637...92,157,014
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Mitf |
melanocyte inducing transcription factor |
susceptibility |
ISO |
ClinVar Annotator: match by term: Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness |
ClinVar OMIM |
PMID:8659547 PMID:16199547 PMID:20127975 PMID:24033266 PMID:25741868 PMID:27884168 PMID:27889061 PMID:28492532 PMID:30311386 PMID:34599368 More...
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NCBI chr 4:131,965,676...132,177,790
Ensembl chr 4:130,409,217...130,621,145
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Cmpk1 |
cytidine/uridine monophosphate kinase 1 |
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ISO |
ClinVar Annotator: match by term: Congenital primary aphakia |
ClinVar |
PMID:28492532 |
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NCBI chr 5:128,480,301...128,507,830
Ensembl chr 5:128,480,301...128,507,830
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Foxe3 |
forkhead box E3 |
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ISO ISS |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Congenital primary aphakia OMIM:610256 |
CTD ClinVar MouseDO |
PMID:3550563 PMID:11159941 PMID:11980846 PMID:16826526 PMID:17893665 PMID:19708017 PMID:20140963 PMID:20301299 PMID:20361012 PMID:20806047 PMID:21150893 PMID:24033266 PMID:24033328 PMID:24689660 PMID:25148791 PMID:25504734 PMID:25741868 PMID:26854927 PMID:26995144 PMID:27218149 PMID:28492532 PMID:29136273 PMID:29314435 PMID:29878917 PMID:32224865 PMID:32499604 PMID:32976546 PMID:33726816 PMID:34046667 More...
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NCBI chr 5:133,681,684...133,683,266
Ensembl chr 5:128,445,594...128,446,454
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Gja8 |
gap junction protein, alpha 8 |
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ISO |
ClinVar Annotator: match by term: Congenital primary aphakia |
ClinVar |
PMID:25741868 PMID:28455998 PMID:31690835 PMID:32499604 |
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NCBI chr 2:187,179,668...187,181,284
Ensembl chr 2:184,490,840...184,492,456
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Stil |
STIL, centriolar assembly protein |
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ISO |
ClinVar Annotator: match by term: Congenital primary aphakia |
ClinVar |
PMID:28492532 |
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NCBI chr 5:133,757,598...133,810,493
Ensembl chr 5:128,520,953...128,573,730
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Mmp1 |
matrix metallopeptidase 1 |
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ISO |
protein:decreased activity:kidney (mouse) |
RGD |
PMID:11014984 |
RGD:7207147 |
NCBI chr 8:12,943,453...12,963,966
Ensembl chr 8:4,658,588...4,679,097
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Igbp1 |
immunoglobulin binding protein 1 |
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ISO |
ClinVar Annotator: match by term: Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome | ClinVar Annotator: match by term: IGBP1-related condition CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:25741868 PMID:28492532 |
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NCBI chr X:69,622,925...69,645,167
Ensembl chr X:65,582,821...65,606,049
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Vsx1 |
visual system homeobox 1 |
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ISO |
ClinVar Annotator: match by term: Craniofacial anomalies and anterior segment dysgenesis syndrome |
OMIM ClinVar |
PMID:11978762 PMID:15051220 PMID:16303937 PMID:21976959 PMID:25741868 PMID:28492532 More...
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NCBI chr 3:159,974,693...159,982,292
Ensembl chr 3:139,514,270...139,521,869
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Adamtsl4 |
ADAMTS-like 4 |
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ISO |
ClinVar Annotator: match by term: Craniosynostosis with ectopia lentis |
ClinVar |
PMID:2056446 PMID:9536098 PMID:17576681 PMID:20564469 PMID:20702823 PMID:21051722 PMID:22338190 PMID:22736615 PMID:22871183 PMID:24033266 PMID:25741868 PMID:25975359 PMID:28492532 PMID:28642162 PMID:35378950 PMID:36089008 More...
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NCBI chr 2:183,235,634...183,247,091
Ensembl chr 2:183,235,646...183,246,848
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Frem2 |
FRAS1 related extracellular matrix 2 |
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ISO |
ClinVar Annotator: match by term: Cryptophthalmia |
ClinVar |
PMID:18203166 PMID:25741868 PMID:26552811 PMID:28492532 |
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NCBI chr 2:139,753,055...139,891,046
Ensembl chr 2:137,602,784...137,740,785
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Foxc1 |
forkhead box C1 |
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ISO |
ClinVar Annotator: match by term: Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities |
ClinVar |
PMID:25741868 |
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NCBI chr17:32,840,119...32,844,100
Ensembl chr17:32,633,142...32,634,803
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Pitx2 |
paired-like homeodomain 2 |
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ISO |
ClinVar Annotator: match by term: Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities |
ClinVar |
PMID:25741868 |
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NCBI chr 2:220,391,417...220,411,588
Ensembl chr 2:217,717,693...217,737,293
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Wac |
WW domain containing adaptor with coiled-coil |
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ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL DELAY, BEHAVIORAL ABNORMALITIES, FACIAL DYSMORPHISM, AND OCULAR ABNORMALITIES | ClinVar Annotator: match by term: DeSanto-Shinawi syndrome | ClinVar Annotator: match by term: Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation | ClinVar Annotator: match by term: WAC-related condition |
OMIM ClinVar |
PMID:23033978 PMID:25741868 PMID:26264232 PMID:26757981 PMID:28191890 PMID:28492532 PMID:29190062 More...
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NCBI chr17:60,617,702...60,677,771
Ensembl chr17:55,923,123...55,982,301
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Arpc4 |
actin related protein 2/3 complex, subunit 4 |
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ISO |
ClinVar Annotator: match by term: Developmental delay, language impairment, and ocular abnormalities |
OMIM ClinVar |
PMID:25741868 PMID:35047857 |
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NCBI chr 4:148,077,799...148,088,427
Ensembl chr 4:146,522,176...146,532,785
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Atp9a |
ATPase phospholipid transporting 9A (putative) |
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ISO |
ClinVar Annotator: match by term: Duane-radial ray syndrome |
ClinVar |
PMID:11826030 PMID:15342710 |
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NCBI chr 3:157,360,354...157,467,628
Ensembl chr 3:157,360,359...157,467,818
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Sall4 |
spalt-like transcription factor 4 |
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ISO ISS |
ClinVar Annotator: match by term: Duane-radial ray syndrome | ClinVar Annotator: match by term: SALL4-related disorder OMIM:607323 |
OMIM ClinVar MouseDO RGD |
PMID:843249 PMID:8025439 PMID:8287186 PMID:9536098 PMID:11826030 PMID:12393809 PMID:12395297 PMID:12789647 PMID:12843316 PMID:12868480 PMID:15342710 PMID:16086360 PMID:16199547 PMID:16402211 PMID:16411190 PMID:17576681 PMID:22382802 PMID:25741868 PMID:26571382 PMID:26791099 PMID:27661448 PMID:28166811 PMID:28492532 PMID:31502745 PMID:36474027 PMID:37673932 PMID:16790473 More...
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RGD:155631313 |
NCBI chr 3:177,891,705...177,909,743
Ensembl chr 3:157,474,642...157,490,822
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Adamtsl4 |
ADAMTS-like 4 |
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ISO |
ClinVar Annotator: match by term: Ectopia lentis |
ClinVar |
PMID:2056446 PMID:20564469 PMID:20702823 PMID:21051722 PMID:22338190 PMID:22736615 PMID:22871183 PMID:24033266 PMID:25741868 PMID:25975359 PMID:28492532 PMID:28642162 PMID:35378950 More...
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NCBI chr 2:183,235,634...183,247,091
Ensembl chr 2:183,235,646...183,246,848
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Fbn1 |
fibrillin 1 |
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ISO |
DNA:missense mutation:cds:p.R240C (human) ClinVar Annotator: match by term: Ectopia lentis DNA:missense mutation:exon:p.C587R (c.1759T>C) (human) DNA:missense mutation:exon:p.R62C (c.184C>T) (human) DNA:missense mutation:exon:p.G214S (G640G>A) (human) DNA:missense mutation:exon:p.Y754C (c.2262A>G) (human) DNA:missense mutation:exon:p.C102Y (c.305G>A) (human) CTD Direct Evidence: marker/mechanism |
ClinVar CTD RGD |
PMID:7611299 PMID:7870075 PMID:8653794 PMID:8723076 PMID:8894692 PMID:9399842 PMID:9401003 PMID:9536098 PMID:9837823 PMID:10533071 PMID:10633129 PMID:10874320 PMID:11700157 PMID:11992479 PMID:12402346 PMID:12938084 PMID:14695540 PMID:16220557 PMID:16222657 PMID:16835936 PMID:17253931 PMID:17418587 PMID:17576681 PMID:17627385 PMID:17657824 PMID:17663468 PMID:19159394 PMID:19293843 PMID:21542060 PMID:21895641 PMID:22772368 PMID:23577066 PMID:24033266 PMID:24161884 PMID:24793577 PMID:24941995 PMID:25326635 PMID:25504618 PMID:25741868 PMID:25812041 PMID:25852444 PMID:26133393 PMID:26787436 PMID:26875674 PMID:27906200 PMID:27959697 PMID:28492532 PMID:29357934 PMID:29543232 PMID:30796334 PMID:31098894 PMID:31211626 PMID:31227806 PMID:32123317 PMID:37684520 PMID:15054843 PMID:22219643 PMID:22950452 PMID:15733436 PMID:22393277 PMID:26558191 PMID:8136837 More...
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RGD:1580380, RGD:12910481, RGD:12910479, RGD:12910140, RGD:12910138, RGD:12904906, RGD:1300363 |
NCBI chr 3:133,007,693...133,204,277
Ensembl chr 3:112,554,925...112,750,889
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Ltbp2 |
latent transforming growth factor beta binding protein 2 |
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ISO |
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RGD |
PMID:33039488 |
RGD:156431213 |
NCBI chr 6:110,161,029...110,261,586
Ensembl chr 6:104,429,947...104,526,208
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Adamtsl4 |
ADAMTS-like 4 |
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ISO |
ClinVar Annotator: match by term: Ectopia lentis et pupillae CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:2056446 PMID:9536098 PMID:17576681 PMID:20564469 PMID:20702823 PMID:21051722 PMID:22338190 PMID:22736615 PMID:22871183 PMID:23426735 PMID:24033266 PMID:24802351 PMID:25741868 PMID:25741879 PMID:25975359 PMID:26653794 PMID:28394649 PMID:28492532 PMID:28642162 PMID:31848469 PMID:35042684 PMID:35378950 PMID:36089008 PMID:36208099 PMID:37107549 More...
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NCBI chr 2:183,235,634...183,247,091
Ensembl chr 2:183,235,646...183,246,848
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Asph |
aspartate-beta-hydroxylase |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: ASPH-related condition | ClinVar Annotator: match by term: Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs | ClinVar Annotator: match by term: TRABOULSI SYNDROME |
OMIM CTD ClinVar |
PMID:11241487 PMID:23687502 PMID:24768550 PMID:25741868 PMID:28492532 PMID:30194805 PMID:31274573 PMID:33217155 More...
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NCBI chr 5:27,398,933...27,611,519
Ensembl chr 5:22,603,486...22,813,876
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Abca4 |
ATP binding cassette subfamily A member 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29207047 |
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NCBI chr 2:212,849,470...212,986,730
Ensembl chr 2:210,164,813...210,302,069
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Cdh5 |
cadherin 5 |
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ISS |
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MouseDO |
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NCBI chr19:821,875...860,931
Ensembl chr19:815,411...854,368
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Ctnnb1 |
catenin beta 1 |
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ISS |
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MouseDO |
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NCBI chr 8:129,517,576...129,544,661
Ensembl chr 8:120,639,995...120,667,111
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Fzd4 |
frizzled class receptor 4 |
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ISS ISO |
OMIM:133780 | OMIM:305390 | OMIM:601813 | OMIM:605750 | OMIM:613310 ClinVar Annotator: match by term: Familial exudative vitreoretinopathy |
MouseDO ClinVar |
PMID:14507768 PMID:15035989 PMID:17955262 PMID:20340138 PMID:20938005 PMID:24033266 PMID:24744206 PMID:25711638 PMID:25741868 PMID:26908610 PMID:27316669 PMID:28492532 PMID:30452590 PMID:31294129 More...
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NCBI chr 1:152,692,507...152,701,372
Ensembl chr 1:143,280,065...143,285,724
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Lrp5 |
LDL receptor related protein 5 |
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ISO ISS |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Familial exudative vitreoretinopathy |
CTD ClinVar MouseDO |
PMID:8832721 PMID:11719191 PMID:15024691 PMID:16199547 PMID:16252235 PMID:24715757 PMID:25525159 PMID:25711638 PMID:25741868 PMID:28041643 PMID:28492532 PMID:29181528 PMID:29207047 PMID:30452590 PMID:31237656 PMID:31299183 PMID:31589614 PMID:31987760 PMID:32581362 PMID:33118644 PMID:35328049 More...
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NCBI chr 1:210,243,499...210,346,886
Ensembl chr 1:200,814,250...200,917,581
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Ndp |
norrin cystine knot growth factor NDP |
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ISS |
OMIM:133780 | OMIM:305390 | OMIM:601813 | OMIM:605750 | OMIM:613310 |
MouseDO |
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NCBI chr X:8,379,569...8,404,019
Ensembl chr X:5,796,487...5,820,934
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Prss23 |
serine protease 23 |
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ISO |
ClinVar Annotator: match by term: Familial exudative vitreoretinopathy |
ClinVar |
PMID:14507768 PMID:15035989 PMID:17955262 PMID:20340138 PMID:20938005 PMID:24033266 PMID:24744206 PMID:25711638 PMID:25741868 PMID:26908610 PMID:27316669 PMID:28492532 PMID:30452590 PMID:31294129 More...
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NCBI chr 1:152,815,301...152,835,005
Ensembl chr 1:143,401,396...143,422,091
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Tspan12 |
tetraspanin 12 |
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ISS ISO |
OMIM:133780 | OMIM:305390 | OMIM:601813 | OMIM:605750 | OMIM:613310 ClinVar Annotator: match by term: Familial exudative vitreoretinopathy |
MouseDO ClinVar |
PMID:25250762 PMID:25741868 PMID:28041643 PMID:28492532 |
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NCBI chr 4:51,279,562...51,355,030
Ensembl chr 4:50,313,772...50,389,246
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Znf408 |
zinc finger protein 408 |
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ISO |
ClinVar Annotator: match by term: Familial exudative vitreoretinopathy |
ClinVar |
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NCBI chr 3:77,615,595...77,621,325
Ensembl chr 3:77,616,808...77,621,055
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Ccdc81 |
coiled-coil domain containing 81 |
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ISO |
ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 |
ClinVar |
PMID:21097938 PMID:21681106 |
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NCBI chr 1:153,152,032...153,203,586
Ensembl chr 1:143,739,474...143,790,926
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Ccdc83 |
coiled-coil domain containing 83 |
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ISO |
ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 |
ClinVar |
PMID:21097938 PMID:21681106 |
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NCBI chr 1:144,167,993...144,225,622
Ensembl chr 1:144,167,857...144,225,656
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Ccdc89 |
coiled-coil domain containing 89 |
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ISO |
ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 |
ClinVar |
PMID:21097938 PMID:21681106 |
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NCBI chr 1:144,386,252...144,387,514
Ensembl chr 1:144,386,158...144,389,850
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Crebzf |
CREB/ATF bZIP transcription factor |
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ISO |
ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 |
ClinVar |
PMID:21097938 PMID:21681106 |
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NCBI chr 1:153,829,544...153,836,073
Ensembl chr 1:144,417,446...144,428,553
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Ctnnb1 |
catenin beta 1 |
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ISO |
ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 | ClinVar Annotator: match by term: Familial exudative vitreoretinopathy, autosomal dominant |
ClinVar |
PMID:28492532 PMID:28575650 PMID:36083290 |
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NCBI chr 8:129,517,576...129,544,661
Ensembl chr 8:120,639,995...120,667,111
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Dlg2 |
discs large MAGUK scaffold protein 2 |
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ISO |
ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 |
ClinVar |
PMID:21097938 PMID:21681106 |
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NCBI chr 1:153,864,545...155,916,238
Ensembl chr 1:144,451,472...146,499,475
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G |
Eed |
embryonic ectoderm development |
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ISO |
ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 |
ClinVar |
PMID:21097938 PMID:21681106 |
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NCBI chr 1:143,867,875...143,895,008
Ensembl chr 1:143,867,875...143,894,974
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G |
Fzd4 |
frizzled class receptor 4 |
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ISO |
ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 | ClinVar Annotator: match by term: FZD4-related condition | ClinVar Annotator: match by term: Familial exudative vitreoretinopathy, autosomal dominant CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM RGD |
PMID:12172548 PMID:14507768 PMID:15035989 PMID:15370539 PMID:15488808 PMID:15733276 PMID:15981244 PMID:17955262 PMID:19324841 PMID:20340138 PMID:20938005 PMID:21097938 PMID:21177847 PMID:21179236 PMID:21681106 PMID:23441120 PMID:24033266 PMID:24744206 PMID:25711638 PMID:25741868 PMID:26227961 PMID:26908610 PMID:27316669 PMID:28492532 PMID:29135315 PMID:30097784 PMID:30452590 PMID:30882657 PMID:31169861 PMID:31294129 PMID:31765079 PMID:34426522 PMID:34860240 PMID:35052368 PMID:35394490 PMID:35876299 PMID:12172548 More...
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RGD:1598999 |
NCBI chr 1:152,692,507...152,701,372
Ensembl chr 1:143,280,065...143,285,724
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G |
Hikeshi |
heat shock protein nuclear import factor hikeshi |
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ISO |
ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 |
ClinVar |
PMID:21097938 PMID:21681106 |
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NCBI chr 1:153,237,948...153,261,856
Ensembl chr 1:143,825,923...143,849,363
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G |
Lrp5 |
LDL receptor related protein 5 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 | ClinVar Annotator: match by term: Familial exudative vitreoretinopathy, autosomal dominant |
CTD ClinVar |
PMID:9536098 PMID:11719191 PMID:12579474 PMID:15024691 PMID:15077203 PMID:15201508 PMID:15619672 PMID:15767861 PMID:15777745 PMID:15824851 PMID:15824861 PMID:15850991 PMID:16199547 PMID:16234968 PMID:16252235 PMID:16679074 PMID:17137849 PMID:17202888 PMID:17223614 PMID:17306638 PMID:17307038 PMID:17576681 PMID:18026682 PMID:18058054 PMID:18349089 PMID:18588671 PMID:18602879 PMID:19324841 PMID:21116122 PMID:21528003 PMID:22025579 PMID:22456437 PMID:22511589 PMID:23441120 PMID:23744590 PMID:24423337 PMID:24706814 PMID:24715757 PMID:25323851 PMID:25711638 PMID:25741868 PMID:25920554 PMID:26467025 PMID:28192794 PMID:28222408 PMID:28378289 PMID:28420620 PMID:28492532 PMID:28494495 PMID:29168297 PMID:29181528 PMID:30283887 PMID:30452590 PMID:31039433 PMID:31827910 PMID:33118644 PMID:33302760 PMID:33939331 PMID:34639175 PMID:34673960 PMID:34860240 PMID:35106624 PMID:35252483 PMID:35328049 More...
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NCBI chr 1:210,243,499...210,346,886
Ensembl chr 1:200,814,250...200,917,581
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G |
Me3 |
malic enzyme 3 |
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ISO |
ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 |
ClinVar |
PMID:21097938 PMID:21681106 |
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NCBI chr 1:152,946,595...153,148,026
Ensembl chr 1:143,534,139...143,733,132
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G |
Picalm |
phosphatidylinositol binding clathrin assembly protein |
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ISO |
ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 |
ClinVar |
PMID:21097938 PMID:21681106 |
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NCBI chr 1:144,056,415...144,138,045
Ensembl chr 1:144,056,721...144,137,557
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G |
Prss23 |
serine protease 23 |
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ISO |
ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 | ClinVar Annotator: match by term: FZD4-related condition | ClinVar Annotator: match by term: Familial exudative vitreoretinopathy, autosomal dominant |
ClinVar |
PMID:12172548 PMID:14507768 PMID:15035989 PMID:15488808 PMID:15733276 PMID:15981244 PMID:17955262 PMID:20340138 PMID:20938005 PMID:21097938 PMID:21681106 PMID:24033266 PMID:24744206 PMID:25711638 PMID:25741868 PMID:26908610 PMID:27316669 PMID:28492532 PMID:30452590 PMID:31294129 More...
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NCBI chr 1:152,815,301...152,835,005
Ensembl chr 1:143,401,396...143,422,091
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G |
Sytl2 |
synaptotagmin-like 2 |
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ISO |
ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 |
ClinVar |
PMID:21097938 PMID:21681106 |
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NCBI chr 1:144,272,870...144,379,310
Ensembl chr 1:144,273,360...144,379,222
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G |
Tmem126a |
transmembrane protein 126A |
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ISO |
ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 |
ClinVar |
PMID:21097938 PMID:21681106 |
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NCBI chr 1:153,837,015...153,843,192
Ensembl chr 1:144,422,703...144,430,628
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G |
Tmem126b |
transmembrane protein 126B |
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ISO |
ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 |
ClinVar |
PMID:21097938 PMID:21681106 |
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NCBI chr 1:144,437,142...144,451,508
Ensembl chr 1:144,437,145...144,451,435
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G |
Tmem135 |
transmembrane protein 135 |
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ISO |
ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 |
ClinVar |
PMID:21097938 PMID:21681106 |
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NCBI chr 1:143,006,343...143,279,824
Ensembl chr 1:143,006,344...143,221,171
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G |
Znf408 |
zinc finger protein 408 |
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ISO |
ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 |
ClinVar |
PMID:23716654 PMID:25741868 PMID:27316669 PMID:28492532 |
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NCBI chr 3:77,615,595...77,621,325
Ensembl chr 3:77,616,808...77,621,055
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G |
Lrp5 |
LDL receptor related protein 5 |
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ISO |
ClinVar Annotator: match by term: Exudative vitreoretinopathy 4 | ClinVar Annotator: match by term: Exudative vitreoretinopathy 4, autosomal dominant | ClinVar Annotator: match by term: Exudative vitreoretinopathy 4, autosomal recessive | ClinVar Annotator: match by term: Exudative vitreoretinopathy 4, digenic CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:3196484 PMID:8832721 PMID:9056564 PMID:9536098 PMID:9831343 PMID:11719191 PMID:12579474 PMID:14507768 PMID:15024691 PMID:15077203 PMID:15201508 PMID:15346351 PMID:15619672 PMID:15767861 PMID:15777745 PMID:15824851 PMID:15824861 PMID:15850991 PMID:15981244 PMID:16199547 PMID:16234968 PMID:16252235 PMID:16679074 PMID:17137849 PMID:17202888 PMID:17223614 PMID:17306638 PMID:17307038 PMID:17576681 PMID:17955262 PMID:18026682 PMID:18058054 PMID:18349089 PMID:18588671 PMID:18602879 PMID:19324841 PMID:19837032 PMID:20034086 PMID:20340138 PMID:21116122 PMID:21528003 PMID:22025579 PMID:22456437 PMID:22511589 PMID:23441120 PMID:23744590 PMID:24423337 PMID:24706814 PMID:24715757 PMID:25323851 PMID:25384351 PMID:25525159 PMID:25711638 PMID:25741868 PMID:25920554 PMID:26244290 PMID:26467025 PMID:28041643 PMID:28191890 PMID:28192794 PMID:28222408 PMID:28378289 PMID:28420620 PMID:28492532 PMID:28494495 PMID:28714951 PMID:29168297 PMID:29181528 PMID:29565416 PMID:30283887 PMID:30452590 PMID:30894705 PMID:31039433 PMID:31077665 PMID:31106028 PMID:31237656 PMID:31589614 PMID:31785789 PMID:31827910 PMID:31964843 PMID:31987760 PMID:32581362 PMID:33118644 PMID:33302760 PMID:33939331 PMID:34639175 PMID:34673960 PMID:34860240 PMID:35106624 PMID:35252483 PMID:35328049 PMID:35754085 PMID:35982159 PMID:35982160 More...
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NCBI chr 1:210,243,499...210,346,886
Ensembl chr 1:200,814,250...200,917,581
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G |
Tspan12 |
tetraspanin 12 |
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ISO |
ClinVar Annotator: match by term: Exudative vitreoretinopathy 5 | ClinVar Annotator: match by term: TSPAN12-related condition CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:15665352 PMID:20159111 PMID:20159112 PMID:21334594 PMID:21552475 PMID:22427576 PMID:25250762 PMID:25352738 PMID:25741868 PMID:28002565 PMID:28041643 PMID:28492532 PMID:28494495 PMID:31106028 PMID:31987760 PMID:34738848 More...
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NCBI chr 4:51,279,562...51,355,030
Ensembl chr 4:50,313,772...50,389,246
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G |
Znf408 |
zinc finger protein 408 |
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ISO |
ClinVar Annotator: match by term: Exudative vitreoretinopathy 6 | ClinVar Annotator: match by term: ZNF408-related condition |
OMIM ClinVar |
PMID:3196484 PMID:6897033 PMID:23716654 PMID:25741868 PMID:25882705 PMID:26167114 PMID:28492532 PMID:28559085 PMID:29982478 PMID:33247286 More...
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NCBI chr 3:77,615,595...77,621,325
Ensembl chr 3:77,616,808...77,621,055
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G |
Ctnnb1 |
catenin beta 1 |
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ISO |
ClinVar Annotator: match by term: EXUDATIVE VITREORETINOPATHY 7 | ClinVar Annotator: match by term: Exudative vitreoretinopathy 7 |
OMIM ClinVar |
PMID:23033978 PMID:24614104 PMID:25326635 PMID:25326669 PMID:25741868 PMID:26350204 PMID:27915094 PMID:27959697 PMID:28333917 PMID:28492532 PMID:28575650 PMID:31526516 PMID:36083290 More...
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NCBI chr 8:129,517,576...129,544,661
Ensembl chr 8:120,639,995...120,667,111
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G |
Slc38a8 |
solute carrier family 38, member 8 |
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ISO ISS |
ClinVar Annotator: match by term: FOVEAL HYPOPLASIA 2 WITH OPTIC NERVE DECUSSATION DEFECTS AND ANTERIOR SEGMENT DYSGENESIS WITHOUT ALBINISM | ClinVar Annotator: match by term: FOVEAL HYPOPLASIA 2 WITH OPTIC NERVE MISROUTING AND ANTERIOR SEGMENT DYSGENESIS | ClinVar Annotator: match by term: Foveal hypoplasia 2 | ClinVar Annotator: match by term: Foveal hypoplasia 2 and optic nerve misrouting with or without anterior segment dysgenesis | ClinVar Annotator: match by term: SLC38A8-related condition OMIM:609218 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:16199547 PMID:16707527 PMID:19590516 PMID:24045842 PMID:24290379 PMID:25741868 PMID:28492532 PMID:28546991 PMID:29345414 PMID:32032626 PMID:32830442 PMID:33498813 PMID:33594928 PMID:33781268 PMID:34415986 PMID:35029636 More...
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NCBI chr19:47,522,781...47,561,443
Ensembl chr19:47,525,301...47,554,726
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G |
Fras1 |
Fraser extracellular matrix complex subunit 1 |
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ISS ISO |
ClinVar Annotator: match by term: Cryptophthalmos with other malformations CTD Direct Evidence: marker/mechanism |
MouseDO ClinVar CTD |
PMID:9536098 PMID:12766769 PMID:16199547 PMID:17163535 PMID:17576681 PMID:18671281 PMID:22029163 PMID:23532946 PMID:24476948 PMID:24700879 PMID:25353622 PMID:25741868 PMID:26893459 PMID:27884173 PMID:28492532 PMID:28844315 PMID:29261186 PMID:30639323 PMID:31308072 PMID:31738409 PMID:33726816 PMID:34246755 PMID:34426522 PMID:34906515 More...
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NCBI chr14:13,095,370...13,506,895
Ensembl chr14:12,793,599...13,200,726
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G |
Frem1 |
Fras1 related extracellular matrix 1 |
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ISS |
OMIM:219000 |
MouseDO |
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NCBI chr 5:97,321,266...97,469,523
Ensembl chr 5:97,322,538...97,469,543
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G |
Frem2 |
FRAS1 related extracellular matrix 2 |
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ISO ISS |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Cryptophthalmos with other malformations |
CTD ClinVar MouseDO |
PMID:17163535 PMID:18203166 PMID:25741868 PMID:26275891 PMID:26552811 PMID:28492532 More...
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NCBI chr 2:139,753,055...139,891,046
Ensembl chr 2:137,602,784...137,740,785
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G |
Grip1 |
glutamate receptor interacting protein 1 |
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ISS ISO |
OMIM:219000 ClinVar Annotator: match by term: GRIP1-related condition |
MouseDO ClinVar |
PMID:21383172 PMID:25741868 PMID:28492532 |
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NCBI chr 7:56,820,501...57,477,877
Ensembl chr 7:54,934,250...55,592,273
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G |
Fras1 |
Fraser extracellular matrix complex subunit 1 |
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ISO |
DNA:mutations:multiple (human) ClinVar Annotator: match by term: FRAS1-related condition | ClinVar Annotator: match by term: Fraser syndrome 1 |
ClinVar OMIM RGD |
PMID:9536098 PMID:12766769 PMID:16199547 PMID:16894541 PMID:17163535 PMID:17576681 PMID:18671281 PMID:21900877 PMID:22029163 PMID:23532946 PMID:24476948 PMID:24551978 PMID:24583203 PMID:24700879 PMID:25353622 PMID:25741868 PMID:26302956 PMID:26893459 PMID:27280866 PMID:27859469 PMID:27884173 PMID:28492532 PMID:28844315 PMID:29261186 PMID:30639323 PMID:31308072 PMID:31319225 PMID:31738409 PMID:31923588 PMID:31999076 PMID:32436246 PMID:32488952 PMID:33726816 PMID:34246755 PMID:34426522 PMID:34906515 PMID:34974531 PMID:35005812 PMID:35595450 PMID:12766769 More...
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RGD:1598960 |
NCBI chr14:13,095,370...13,506,895
Ensembl chr14:12,793,599...13,200,726
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G |
Frem2 |
FRAS1 related extracellular matrix 2 |
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ISO |
ClinVar Annotator: match by term: Fraser syndrome 1 |
ClinVar |
PMID:9536098 PMID:17576681 PMID:18203166 PMID:25741868 PMID:26275891 PMID:26552811 PMID:28492532 More...
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NCBI chr 2:139,753,055...139,891,046
Ensembl chr 2:137,602,784...137,740,785
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G |
Grip1 |
glutamate receptor interacting protein 1 |
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ISO |
ClinVar Annotator: match by term: Fraser syndrome 1 |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 7:56,820,501...57,477,877
Ensembl chr 7:54,934,250...55,592,273
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G |
Frem2 |
FRAS1 related extracellular matrix 2 |
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IAGP ISO |
ClinVar Annotator: match by term: FREM2-related condition | ClinVar Annotator: match by term: Fraser syndrome 2 |
ClinVar OMIM RGD |
PMID:15838507 PMID:18203166 PMID:18671281 PMID:24115501 PMID:24700879 PMID:25741868 PMID:26275891 PMID:26489029 PMID:26552811 PMID:28492532 PMID:29618029 PMID:29688405 PMID:30143558 PMID:30773290 PMID:30802441 PMID:30838450 PMID:34837691 PMID:36360262 PMID:21756877 PMID:23336369 More...
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RGD:13464328, RGD:126781714 |
NCBI chr 2:139,753,055...139,891,046
Ensembl chr 2:137,602,784...137,740,785
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G |
Frem2fpl |
Fras1 related extracellular matrix protein 2;fpl mutant |
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IAGP |
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RGD |
PMID:21756877 PMID:23336369 |
RGD:13464328, RGD:126781714 |
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G |
Adamts14 |
ADAM metallopeptidase with thrombospondin type 1 motif, 14 |
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ISO |
ClinVar Annotator: match by term: Fraser syndrome 3 |
ClinVar |
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NCBI chr20:29,685,876...29,762,685
Ensembl chr20:29,144,354...29,219,866
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G |
Aipl1 |
aryl hydrocarbon receptor-interacting protein-like 1 |
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ISO |
ClinVar Annotator: match by term: Fraser syndrome 3 |
ClinVar |
PMID:24426771 PMID:28492532 |
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NCBI chr10:57,154,226...57,163,455
Ensembl chr10:56,655,693...56,664,922
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G |
Aspa |
aspartoacylase |
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ISO |
ClinVar Annotator: match by term: Fraser syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chr10:58,390,204...58,443,790
Ensembl chr10:57,892,104...57,945,272
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G |
Bclaf1 |
BCL2-associated transcription factor 1 |
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ISO |
ClinVar Annotator: match by term: Fraser syndrome 3 |
ClinVar |
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NCBI chr 1:16,904,572...16,937,106
Ensembl chr 1:15,070,894...15,148,832
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G |
Borcs6 |
BLOC-1 related complex subunit 6 |
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ISO |
ClinVar Annotator: match by term: Fraser syndrome 3 |
ClinVar |
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NCBI chr10:54,259,349...54,261,203
Ensembl chr10:53,758,093...53,762,632
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G |
Gnb5 |
G protein subunit beta 5 |
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ISO |
ClinVar Annotator: match by term: Fraser syndrome 3 |
ClinVar |
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NCBI chr 8:84,956,629...84,985,576
Ensembl chr 8:76,073,306...76,105,069
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G |
Grip1 |
glutamate receptor interacting protein 1 |
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ISO |
ClinVar Annotator: match by term: Fraser syndrome 3 |
OMIM ClinVar |
PMID:21383172 PMID:22510445 PMID:24033266 PMID:24357607 PMID:25741868 PMID:26539891 PMID:28492532 PMID:36474027 More...
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NCBI chr 7:56,820,501...57,477,877
Ensembl chr 7:54,934,250...55,592,273
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G |
Lsm10 |
LSM10, U7 small nuclear RNA associated |
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ISO |
ClinVar Annotator: match by term: Fraser syndrome 3 |
ClinVar |
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NCBI chr 5:143,649,817...143,660,391
Ensembl chr 5:138,373,119...138,377,505
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G |
Med23 |
mediator complex subunit 23 |
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ISO |
ClinVar Annotator: match by term: Fraser syndrome 3 |
ClinVar |
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NCBI chr 1:22,309,613...22,377,745
Ensembl chr 1:20,490,315...20,537,463
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G |
Mpc1 |
mitochondrial pyruvate carrier 1 |
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ISO |
ClinVar Annotator: match by term: Fraser syndrome 3 |
ClinVar |
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NCBI chr 1:52,437,745...52,449,399
Ensembl chr 1:52,437,741...52,449,400
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G |
Myo18b |
myosin XVIIIb |
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ISO |
ClinVar Annotator: match by term: Fraser syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chr12:49,421,062...49,614,127
Ensembl chr12:43,747,010...43,953,695
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G |
Odad1 |
outer dynein arm docking complex subunit 1 |
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ISO |
ClinVar Annotator: match by term: Fraser syndrome 3 |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 1:96,392,132...96,420,926
Ensembl chr 1:96,394,824...96,420,925
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G |
Ptch1 |
patched 1 |
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ISO |
ClinVar Annotator: match by term: Fraser syndrome 3 |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr17:1,542,705...1,607,730
Ensembl chr17:1,542,877...1,607,333
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G |
Spata22 |
spermatogenesis associated 22 |
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ISO |
ClinVar Annotator: match by term: Fraser syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chr10:58,443,736...58,461,578
Ensembl chr10:57,932,187...57,963,081
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G |
Tlcd3a |
TLC domain containing 3A |
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ISO |
ClinVar Annotator: match by term: Fraser syndrome 3 |
ClinVar |
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NCBI chr10:61,556,193...61,563,529
Ensembl chr10:61,058,042...61,065,283
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G |
Wdr81 |
WD repeat domain 81 |
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ISO |
ClinVar Annotator: match by term: Fraser syndrome 3 |
ClinVar |
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NCBI chr10:60,780,268...60,793,671
Ensembl chr10:60,281,972...60,295,296
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G |
Zxda |
zinc finger, X-linked, duplicated A |
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ISO |
ClinVar Annotator: match by term: Fraser syndrome 3 |
ClinVar |
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NCBI chr X:59,760,871...59,766,010
Ensembl chr X:59,763,210...59,765,903 Ensembl chr X:59,763,210...59,765,903
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G |
Alx1 |
ALX homeobox 1 |
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ISO ISS |
ClinVar Annotator: match by term: ALX1-related condition | ClinVar Annotator: match by term: Frontonasal dysplasia 3 OMIM:613456 |
OMIM ClinVar MouseDO |
PMID:20451171 PMID:24467814 PMID:25741868 PMID:27324866 PMID:28492532 |
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NCBI chr 7:40,044,185...40,063,778
Ensembl chr 7:38,147,117...38,177,220
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G |
Tomm7 |
translocase of outer mitochondrial membrane 7 |
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ISO |
ClinVar Annotator: match by term: Garg-Mishra progeroid syndrome |
ClinVar OMIM |
PMID:36282599 PMID:36299998 |
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NCBI chr 4:12,197,503...12,204,344
Ensembl chr 4:11,305,110...11,311,962
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G |
Itpr1 |
inositol 1,4,5-trisphosphate receptor, type 1 |
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ISO |
ClinVar Annotator: match by term: Aniridia-cerebellar ataxia-intellectual disability syndrome | ClinVar Annotator: match by term: Gillespie syndrome CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:7952360 PMID:9536098 PMID:10664581 PMID:17558851 PMID:17576681 PMID:21465660 PMID:24091540 PMID:25741868 PMID:25794864 PMID:26467025 PMID:27062503 PMID:27108797 PMID:27108798 PMID:27391121 PMID:27572814 PMID:27862915 PMID:28492532 PMID:28620721 PMID:28659154 PMID:28826917 PMID:29169895 PMID:29482223 PMID:29925855 PMID:30564305 PMID:32499604 PMID:33948933 PMID:37164302 More...
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NCBI chr 4:142,743,401...143,066,505
Ensembl chr 4:141,187,418...141,510,491
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Pax6 |
paired box 6 |
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ISO |
ClinVar Annotator: match by term: Gillespie syndrome |
ClinVar |
PMID:25741868 PMID:26899008 |
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NCBI chr 3:112,590,034...112,611,771
Ensembl chr 3:92,135,637...92,157,014
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Smg9 |
SMG9 nonsense mediated mRNA decay factor |
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ISO |
ClinVar Annotator: match by term: Heart and brain malformation syndrome |
OMIM ClinVar |
PMID:25741868 PMID:27018474 PMID:28492532 PMID:31390136 PMID:32412169 PMID:33609422 More...
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NCBI chr 1:79,988,540...80,011,262
Ensembl chr 1:79,988,612...80,011,254
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Nmnat1 |
nicotinamide nucleotide adenylyltransferase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22842230 |
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NCBI chr 5:165,193,301...165,211,213
Ensembl chr 5:159,910,242...159,928,180
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Chd7 |
chromodomain helicase DNA binding protein 7 |
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ISO |
ClinVar Annotator: match by term: Hittner Hirsch Kreh syndrome |
ClinVar |
PMID:9536098 PMID:15300250 PMID:16155193 PMID:16400610 PMID:16615981 PMID:16763960 PMID:17576681 PMID:17661815 PMID:18073582 PMID:18381613 PMID:18414213 PMID:18445044 PMID:18484313 PMID:18834967 PMID:20624498 PMID:20884005 PMID:21158681 PMID:21378379 PMID:21554267 PMID:21931733 PMID:22033296 PMID:22461308 PMID:22462537 PMID:22539353 PMID:23024289 PMID:23533228 PMID:23885230 PMID:24033266 PMID:24979395 PMID:25064402 PMID:25077900 PMID:25383892 PMID:25741868 PMID:25931334 PMID:26467025 PMID:26538304 PMID:26590800 PMID:26666243 PMID:28492532 PMID:28554332 PMID:29255181 PMID:29255276 PMID:29419413 PMID:30311386 PMID:30733481 PMID:31019026 PMID:31564432 PMID:32804436 PMID:32870266 PMID:33142350 PMID:34837038 More...
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NCBI chr 5:26,609,245...26,792,736
Ensembl chr 5:21,812,070...21,995,358
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Ep300 |
E1A binding protein p300 |
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ISO |
ClinVar Annotator: match by term: Hittner Hirsch Kreh syndrome |
ClinVar |
PMID:29300383 |
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NCBI chr 7:114,987,857...115,058,652
Ensembl chr 7:113,106,247...113,136,088 Ensembl chr 7:113,106,247...113,136,088
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Puf60 |
poly-U binding splicing factor 60 |
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ISO |
ClinVar Annotator: match by term: Hittner Hirsch Kreh syndrome |
ClinVar |
PMID:25741868 PMID:29300383 |
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NCBI chr 7:109,663,490...109,674,443
Ensembl chr 7:107,782,770...107,794,531
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Sema3e |
semaphorin 3E |
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ISO |
ClinVar Annotator: match by term: Hittner Hirsch Kreh syndrome |
ClinVar |
PMID:9536098 PMID:15235037 PMID:17576681 PMID:25741868 PMID:25985275 PMID:28492532 PMID:30773290 PMID:32870266 More...
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NCBI chr 4:21,252,686...21,510,449
Ensembl chr 4:20,299,718...20,555,229
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Gli2 |
GLI family zinc finger 2 |
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ISO |
ClinVar Annotator: match by term: HOLOPROSENCEPHALY WITH MICROPHTHALMIA AND FIRST BRANCHIAL ARCH ANOMALIES |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr13:32,499,678...32,716,418
Ensembl chr13:29,946,809...30,163,574
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Cyp1b1 |
cytochrome P450, family 1, subfamily b, polypeptide 1 |
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ISO |
DNA:insertion, deletions:exons, intron:g.1209_1214insC, g.1410_1422del, g.1389-?-1422+?del (human) |
RGD |
PMID:9097971 |
RGD:1599716 |
NCBI chr 6:21,093,927...21,103,091
Ensembl chr 6:15,342,344...15,350,917
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Flt1 |
Fms related receptor tyrosine kinase 1 |
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ISO |
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RGD |
PMID:22426483 |
RGD:8549773 |
NCBI chr12:12,333,050...12,504,750
Ensembl chr12:7,297,292...7,468,626
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Kdr |
kinase insert domain receptor |
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ISO |
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RGD |
PMID:22426483 |
RGD:8549773 |
NCBI chr14:32,572,031...32,615,204
Ensembl chr14:32,217,871...32,261,018
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Brpf1 |
bromodomain and PHD finger containing, 1 |
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ISO |
ClinVar Annotator: match by term: BRPF1-related condition | ClinVar Annotator: match by term: Intellectual developmental disorder with dysmorphic facies and ptosis |
OMIM ClinVar |
PMID:25741868 PMID:27939639 PMID:27939640 PMID:28492532 PMID:32010779 PMID:32652122 More...
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NCBI chr 4:148,011,977...148,028,431
Ensembl chr 4:146,456,318...146,472,649
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Rpl10l |
ribosomal protein L10 like |
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ISO |
ClinVar Annotator: match by term: Intellectual developmental disorder with dysmorphic facies and ptosis |
ClinVar |
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NCBI chr 6:90,280,962...90,281,982
Ensembl chr 6:84,543,540...84,545,816
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Mtss2 |
MTSS I-BAR domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Intellectual developmental disorder with ocular anomalies and distinctive facial features | ClinVar Annotator: match by term: MTSS2-related neurodevelopmental disorder |
OMIM ClinVar |
PMID:25741868 PMID:36067766 |
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NCBI chr19:38,692,793...38,714,575
Ensembl chr19:38,693,194...38,713,507
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Pitx2 |
paired-like homeodomain 2 |
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ISO |
ClinVar Annotator: match by term: Iridogoniodysgenesis syndrome |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 2:220,391,417...220,411,588
Ensembl chr 2:217,717,693...217,737,293
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Chd7 |
chromodomain helicase DNA binding protein 7 |
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ISO |
ClinVar Annotator: match by term: Iris coloboma |
ClinVar |
PMID:25741868 |
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NCBI chr 5:26,609,245...26,792,736
Ensembl chr 5:21,812,070...21,995,358
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Pax6 |
paired box 6 |
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ISO |
ClinVar Annotator: match by term: Iris coloboma |
ClinVar |
PMID:25741868 |
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NCBI chr 3:112,590,034...112,611,771
Ensembl chr 3:92,135,637...92,157,014
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Tfap2a |
transcription factor AP-2 alpha |
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ISO |
ClinVar Annotator: match by term: Iris coloboma |
ClinVar |
PMID:25741868 |
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NCBI chr17:24,230,064...24,253,219
Ensembl chr17:24,024,432...24,047,507
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Tmem67 |
transmembrane protein 67 |
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ISO |
ClinVar Annotator: match by term: Iris coloboma |
ClinVar |
PMID:20232449 PMID:23559409 PMID:24033266 PMID:25741868 PMID:26729329 PMID:28492532 More...
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NCBI chr 5:30,333,793...30,386,702
Ensembl chr 5:25,536,458...25,589,334
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Frem1 |
Fras1 related extracellular matrix 1 |
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ISO |
DNA:deletion, frame shift:cds, splice junction: DNA:missense mutation:cds:c.1687A>T c (p.I563F)(mouse) |
RGD |
PMID:23221805 PMID:23536828 |
RGD:11554181, RGD:11554185 |
NCBI chr 5:97,321,266...97,469,523
Ensembl chr 5:97,322,538...97,469,543
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Frem2 |
FRAS1 related extracellular matrix 2 |
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ISO ISS |
ClinVar Annotator: match by term: Isolated cryptophthalmia OMIM:123570 |
OMIM ClinVar MouseDO |
PMID:9536098 PMID:17576681 PMID:18203166 PMID:24115501 PMID:25741868 PMID:26275891 PMID:26552811 PMID:28492532 PMID:29618029 PMID:29688405 PMID:30143558 PMID:30802441 PMID:30838450 More...
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NCBI chr 2:139,753,055...139,891,046
Ensembl chr 2:137,602,784...137,740,785
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Adamtsl4 |
ADAMTS-like 4 |
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ISO |
ClinVar Annotator: match by term: Isolated ectopia lentis |
ClinVar |
PMID:19200529 PMID:20564469 PMID:22736615 PMID:24033266 PMID:25741868 PMID:28492532 PMID:28642162 More...
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NCBI chr 2:183,235,634...183,247,091
Ensembl chr 2:183,235,646...183,246,848
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Fbn1 |
fibrillin 1 |
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ISO |
ClinVar Annotator: match by term: Familial ectopia lentis |
ClinVar |
PMID:7802039 PMID:9399842 PMID:11700157 PMID:11826022 PMID:12203987 PMID:12203992 PMID:12446365 PMID:12938084 PMID:14695540 PMID:15054843 PMID:15980072 PMID:16342915 PMID:16765689 PMID:16971892 PMID:17242066 PMID:17657824 PMID:17679947 PMID:17701892 PMID:18079676 PMID:18087243 PMID:18615205 PMID:19293843 PMID:19353630 PMID:20301510 PMID:20375004 PMID:20564469 PMID:20699357 PMID:21895641 PMID:22772377 PMID:22950452 PMID:24033266 PMID:24161884 PMID:25053872 PMID:25741868 PMID:25944730 PMID:27274304 PMID:27611364 PMID:28492532 PMID:29357934 PMID:30675029 PMID:30838813 PMID:31950671 PMID:32123317 PMID:32404357 PMID:32679894 PMID:34281902 PMID:34663891 PMID:34818515 More...
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NCBI chr 3:133,007,693...133,204,277
Ensembl chr 3:112,554,925...112,750,889
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Vrk1 |
VRK serine/threonine kinase 1 |
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ISO |
ClinVar Annotator: match by term: Isolated microphthalmia 2 |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 6:130,679,400...130,746,089
Ensembl chr 6:124,914,855...124,981,436
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Vsx2 |
visual system homeobox 2 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Isolated microphthalmia 2 | ClinVar Annotator: match by term: VSX2-related condition |
OMIM CTD ClinVar |
PMID:3378363 PMID:10932181 PMID:15257456 PMID:16199547 PMID:17661825 PMID:20414678 PMID:21976963 PMID:23028343 PMID:24033328 PMID:25741868 PMID:26893459 PMID:26995144 PMID:27013732 PMID:28121235 PMID:28492532 PMID:30181649 More...
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NCBI chr 6:109,932,943...109,972,005
Ensembl chr 6:104,217,230...104,240,018
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Alpk2 |
alpha-kinase 2 |
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ISO |
ClinVar Annotator: match by term: Isolated microphthalmia 3 |
ClinVar |
PMID:14662654 PMID:18783408 PMID:19935664 PMID:21778431 PMID:24033328 PMID:26686525 PMID:28492532 More...
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NCBI chr18:61,045,717...61,161,703
Ensembl chr18:58,775,605...58,906,258
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Atp8b1 |
ATPase phospholipid transporting 8B1 |
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ISO |
ClinVar Annotator: match by term: Isolated microphthalmia 3 |
ClinVar |
PMID:14662654 PMID:18783408 PMID:19935664 PMID:21778431 PMID:24033328 PMID:26686525 PMID:28492532 More...
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NCBI chr18:60,286,605...60,427,862
Ensembl chr18:58,018,268...58,157,396
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Ccbe1 |
collagen and calcium binding EGF domains 1 |
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ISO |
ClinVar Annotator: match by term: Isolated microphthalmia 3 |
ClinVar |
PMID:14662654 PMID:18783408 PMID:19935664 PMID:21778431 PMID:24033328 PMID:26686525 PMID:28492532 More...
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NCBI chr18:61,849,821...62,093,876
Ensembl chr18:59,580,768...59,824,400
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Cplx4 |
complexin 4 |
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ISO |
ClinVar Annotator: match by term: Isolated microphthalmia 3 |
ClinVar |
PMID:14662654 PMID:18783408 PMID:19935664 PMID:21778431 PMID:24033328 PMID:26686525 PMID:28492532 More...
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NCBI chr18:59,481,360...59,504,716
Ensembl chr18:59,481,986...59,497,778
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Fech |
ferrochelatase |
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ISO |
ClinVar Annotator: match by term: Isolated microphthalmia 3 |
ClinVar |
PMID:14662654 PMID:18783408 PMID:19935664 PMID:21778431 PMID:24033328 PMID:26686525 PMID:28492532 More...
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NCBI chr18:60,215,325...60,248,525
Ensembl chr18:57,945,122...57,979,348
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Grp |
gastrin releasing peptide |
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ISO |
ClinVar Annotator: match by term: Isolated microphthalmia 3 |
ClinVar |
PMID:14662654 PMID:18783408 PMID:19935664 PMID:21778431 PMID:24033328 PMID:26686525 PMID:28492532 More...
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NCBI chr18:61,658,655...61,672,037
Ensembl chr18:59,388,274...59,402,061
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Lman1 |
lectin, mannose-binding, 1 |
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ISO |
ClinVar Annotator: match by term: Isolated microphthalmia 3 |
ClinVar |
PMID:14662654 PMID:18783408 PMID:19935664 PMID:21778431 PMID:24033328 PMID:26686525 PMID:28492532 More...
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NCBI chr18:61,778,971...61,800,960
Ensembl chr18:59,508,996...59,530,851
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Malt1 |
MALT1 paracaspase |
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ISO |
ClinVar Annotator: match by term: Isolated microphthalmia 3 |
ClinVar |
PMID:14662654 PMID:18783408 PMID:19935664 PMID:21778431 PMID:24033328 PMID:26686525 PMID:28492532 More...
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NCBI chr18:61,212,290...61,266,272
Ensembl chr18:58,942,299...58,994,260
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Mc4r |
melanocortin 4 receptor |
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ISO |
ClinVar Annotator: match by term: Isolated microphthalmia 3 |
ClinVar |
PMID:14662654 PMID:18783408 PMID:19935664 PMID:21778431 PMID:24033328 PMID:26686525 PMID:28492532 More...
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NCBI chr18:62,689,798...62,691,685
Ensembl chr18:60,419,832...60,421,719
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Mir122 |
microRNA 122 |
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ISO |
ClinVar Annotator: match by term: Isolated microphthalmia 3 |
ClinVar |
PMID:14662654 PMID:18783408 PMID:19935664 PMID:21778431 PMID:24033328 PMID:26686525 PMID:28492532 More...
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NCBI chr18:61,028,817...61,028,901
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Nars1 |
asparaginyl-tRNA synthetase 1 |
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ISO |
ClinVar Annotator: match by term: Isolated microphthalmia 3 |
ClinVar |
PMID:14662654 PMID:18783408 PMID:19935664 PMID:21778431 PMID:24033328 PMID:26686525 PMID:28492532 More...
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NCBI chr18:57,989,308...58,005,584
Ensembl chr18:57,989,308...58,005,622
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