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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 1:77,202,436...77,319,298
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 3:92,162,271...92,385,251
Ensembl chr 3:92,162,280...92,385,243
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G |
Otx2 |
orthodenticle homeobox 2 |
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ISO |
ClinVar Annotator: match by term: Anophthalmia |
ClinVar |
PMID:25741868 PMID:29178648 |
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NCBI chr15:21,942,233...21,953,034
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 3:92,128,772...92,157,022
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 chr18:59,463,347...59,467,469
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 1:235,893,917...235,901,315
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 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Anophthalmia |
CTD ClinVar RGD |
PMID:21532573 PMID:25741868 PMID:12612584 |
RGD:1599088 |
NCBI chr 2:117,536,929...117,539,340
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 8:58,548,899...58,568,861
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 6:104,214,842...104,240,264
Ensembl chr 6:104,217,230...104,240,018
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G |
Bcor |
BCL6 co-repressor |
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ISO |
DNA:missense mutation:exon:254C>T (p.P85L) (human) ClinVar Annotator: match by term: Microphthalmia, syndromic 1 CTD Direct Evidence: marker/mechanism |
ClinVar CTD RGD |
PMID:24728327 PMID:25741868 PMID:28492532 PMID:15004558 |
RGD:1600504 |
NCBI chr X:10,609,756...10,729,613
Ensembl chr X:10,687,732...10,729,613
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G |
Naa10 |
N(alpha)-acetyltransferase 10, NatA catalytic subunit |
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ISO |
ClinVar Annotator: match by term: Microphthalmia, syndromic 1 | ClinVar Annotator: match by term: NAA10-related condition CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:1679229 PMID:11426460 PMID:16114045 PMID:23020937 PMID:24033266 PMID:24431331 PMID:25099252 PMID:25741868 PMID:26522270 PMID:27094817 PMID:28492532 PMID:29957440 PMID:30842225 PMID:31127942 PMID:31174490 PMID:34200686 More...
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NCBI chr X:151,656,056...151,661,304
Ensembl chr X:151,656,056...151,661,252
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G |
Aldh1a3 |
aldehyde dehydrogenase 1 family, member A3 |
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ISO |
ClinVar Annotator: match by term: Isolated anophthalmia-microphthalmia syndrome |
ClinVar |
PMID:25741868 PMID:28590501 |
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NCBI chr 1:119,982,272...120,017,416
Ensembl chr 1:119,982,277...120,017,436
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G |
Nhej1 |
nonhomologous end-joining factor 1 |
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ISO |
ClinVar Annotator: match by term: Isolated anophthalmia-microphthalmia syndrome |
ClinVar |
PMID:25741868 PMID:37580330 |
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NCBI chr 9:76,526,322...76,622,488
Ensembl chr 9:76,526,324...76,622,444
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G |
Sema3e |
semaphorin 3E |
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ISO |
ClinVar Annotator: match by term: Isolated anophthalmia-microphthalmia syndrome |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 4:20,297,534...20,555,287
Ensembl chr 4:20,299,718...20,555,229
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G |
Stra6 |
signaling receptor and transporter of retinol STRA6 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Matthew-Wood syndrome | ClinVar Annotator: match by term: Microphthalmia syndromic 9 | ClinVar Annotator: match by term: Pulmonary agenesis microphthalmi and diaphragmatic defect | ClinVar Annotator: match by term: STRA6-related condition DNA:mutations:multiple (human) |
CTD ClinVar OMIM RGD |
PMID:11857549 PMID:16199547 PMID:17273977 PMID:17503335 PMID:18316031 PMID:19213032 PMID:19309693 PMID:19839040 PMID:22283518 PMID:22686418 PMID:25044680 PMID:25741868 PMID:26373900 PMID:28492532 PMID:30639323 PMID:19309693 More...
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RGD:155631273 |
NCBI chr 8:58,548,899...58,568,861
Ensembl chr 8:58,549,736...58,568,860
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G |
Wnt7b |
Wnt family member 7B |
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ISO |
ClinVar Annotator: match by term: Matthew-Wood syndrome |
ClinVar |
PMID:25741868 PMID:35790350 |
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NCBI chr 7:116,634,817...116,679,459
Ensembl chr 7:116,634,814...116,679,581
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