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G |
Arhgap6 |
Rho GTPase activating protein 6 |
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ISS |
OMIM:206900 | OMIM:300166 | OMIM:309801 | OMIM:600165 | OMIM:601186 | OMIM:607932 | OMIM:609549 | OMIM:610093 | OMIM:610125 | OMIM:611038 | OMIM:611040 | OMIM:611897 | OMIM:613094 | OMIM:613704 | OMIM:615972 |
MouseDO |
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NCBI chr X:24,953,464...25,490,003
Ensembl chr X:24,953,464...25,488,663
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G |
Cdh1 |
cadherin 1 |
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ISO |
ClinVar Annotator: match by term: Anophthalmia - microphthalmia |
ClinVar |
PMID:21106365 PMID:24326041 PMID:24755471 PMID:25231023 PMID:25741868 PMID:25980754 PMID:26182300 PMID:26467025 PMID:26893459 PMID:27582386 PMID:27621404 PMID:28492532 PMID:29577179 PMID:30311375 More...
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NCBI chr19:34,492,371...34,561,775
Ensembl chr19:34,492,371...34,561,775
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G |
Cryba1 |
crystallin, beta A1 |
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IMP |
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RGD |
PMID:15721615 |
RGD:126925760 |
NCBI chr10:62,608,373...62,614,726
Ensembl chr10:62,608,383...62,614,726
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G |
Cryba1Nuc1Dbsa |
crystallin, beta A1;Nuc1 mutant, Dbsa |
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IMP |
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RGD |
PMID:15721615 |
RGD:126925760 |
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G |
Dyrk1a |
dual specificity tyrosine phosphorylation regulated kinase 1A |
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ISO |
ClinVar Annotator: match by term: Microphthalmia |
ClinVar |
PMID:25167861 PMID:25326635 PMID:25641759 PMID:25741868 PMID:25920557 PMID:25944381 PMID:28492532 PMID:32581362 More...
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NCBI chr11:33,890,706...34,009,420
Ensembl chr11:33,890,490...34,009,420
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G |
Elp4 |
elongator acetyltransferase complex subunit 4 |
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ISO |
ClinVar Annotator: match by term: Anophthalmia - microphthalmia |
ClinVar |
PMID:28492532 |
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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 |
Ercc6 |
ERCC excision repair 6, chromatin remodeling factor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10739753 |
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NCBI chr16:7,764,983...7,835,587
Ensembl chr16:7,765,013...7,835,587
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G |
Fancd2 |
FA complementation group D2 |
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ISO |
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RGD |
PMID:12893777 |
RGD:11344906 |
NCBI chr 4:146,679,014...146,743,422
Ensembl chr 4:146,679,179...146,743,412
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G |
Fgf8 |
fibroblast growth factor 8 |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:32472575 |
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NCBI chr 1:244,584,477...244,590,359
Ensembl chr 1:244,584,652...244,590,359
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G |
Gclc |
glutamate-cysteine ligase, catalytic subunit |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:35123994 |
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NCBI chr 8:78,629,899...78,668,547
Ensembl chr 8:78,630,127...78,668,544
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G |
Gja8 |
gap junction protein, alpha 8 |
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IAGP |
DNA:missense mutation:cds:p.L7Q(rat) |
RGD |
PMID:18470322 |
RGD:2293186 |
NCBI chr 2:184,490,840...184,492,456
Ensembl chr 2:184,490,840...184,492,456
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G |
Gja8m1Cub |
gap junction protein, alpha 8; mutant 1 Cub |
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IAGP |
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RGD |
PMID:18470322 |
RGD:2293186 |
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G |
Hccs |
holocytochrome c synthase |
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ISO ISS |
microphthalmia with linear skin defects, OMIM:309801, DNA:point mutations:exon:R197X, R217C OMIM:206900 | OMIM:300166 | OMIM:309801 | OMIM:600165 | OMIM:601186 | OMIM:607932 | OMIM:609549 | OMIM:610093 | OMIM:610125 | OMIM:611038 | OMIM:611040 | OMIM:611897 | OMIM:613094 | OMIM:613704 | OMIM:615972 |
MouseDO RGD |
PMID:17033964 |
RGD:1600417 |
NCBI chr X:24,932,943...24,942,376
Ensembl chr X:24,933,002...24,942,366
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G |
Hmx1 |
H6 family homeobox 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19379485 |
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NCBI chr14:75,361,207...75,364,993
Ensembl chr14:75,361,225...75,364,993
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G |
Lrp5 |
LDL receptor related protein 5 |
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ISO |
DNA:mutation:splice junction: |
RGD |
PMID:28111184 |
RGD:12793059 |
NCBI chr 1:200,814,247...200,917,581
Ensembl chr 1:200,814,250...200,917,581
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G |
Mfrp |
membrane frizzled-related protein |
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ISO |
DNA:nonsense mutations:exons:c.271C>T,c.498dupC(human) |
RGD |
PMID:23742260 |
RGD:11553922 |
NCBI chr 8:44,445,636...44,450,859
Ensembl chr 8:44,445,697...44,450,859
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G |
Mid1 |
midline 1 |
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ISS |
OMIM:206900 | OMIM:300166 | OMIM:309801 | OMIM:600165 | OMIM:601186 | OMIM:607932 | OMIM:609549 | OMIM:610093 | OMIM:610125 | OMIM:611038 | OMIM:611040 | OMIM:611897 | OMIM:613094 | OMIM:613704 | OMIM:615972 |
MouseDO |
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NCBI chr X:24,116,674...24,491,205
Ensembl chr X:24,120,293...24,248,353
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Mip |
major intrinsic protein of lens fiber |
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ISO |
ClinVar Annotator: match by term: Microphthalmos |
ClinVar |
PMID:25741868 |
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NCBI chr 7:643,502...654,573
Ensembl chr 7:647,315...654,400
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G |
Notch1 |
notch receptor 1 |
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ISO |
ClinVar Annotator: match by term: Anophthalmia - microphthalmia |
ClinVar |
PMID:26893459 PMID:28492532 |
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NCBI chr 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531
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G |
Pax6 |
paired box 6 |
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ISO |
human gene in a mouse model ClinVar Annotator: match by term: Anophthalmia - microphthalmia | ClinVar Annotator: match by term: Microphthalmia |
ClinVar RGD |
PMID:9727514 PMID:12868034 PMID:15086958 PMID:16407227 PMID:17417613 PMID:18776953 PMID:25741868 PMID:28492532 PMID:29178648 PMID:18507827 More...
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RGD:8552240 |
NCBI chr 3:92,128,772...92,157,022
Ensembl chr 3:92,135,637...92,157,014
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G |
Pitx3 |
paired-like homeodomain 3 |
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ISO |
DNA:nonsense mutation:cl444C>A(mouse) CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:16565358 PMID:25347445 |
RGD:11535071 |
NCBI chr 1:245,001,106...245,013,881
Ensembl chr 1:245,001,164...245,013,892
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G |
Prr12 |
proline rich 12 |
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ISO |
ClinVar Annotator: match by term: complex microphthalmia |
ClinVar |
PMID:33314030 |
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NCBI chr 1:95,510,015...95,534,002
Ensembl chr 1:95,509,931...95,533,652
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G |
Prss56 |
serine protease 56 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21532570 |
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NCBI chr 9:87,842,806...87,859,978
Ensembl chr 9:87,854,805...87,859,978
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G |
Rab3gap2 |
RAB3 GTPase activating non-catalytic protein subunit 2 |
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ISO |
ClinVar Annotator: match by term: Microphthalmos |
ClinVar |
PMID:25741868 |
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NCBI chr13:96,757,430...96,828,930
Ensembl chr13:96,757,460...96,829,478
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G |
Ralbp1 |
ralA binding protein 1 |
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ISS |
OMIM:206900 | OMIM:300166 | OMIM:309801 | OMIM:600165 | OMIM:601186 | OMIM:607932 | OMIM:609549 | OMIM:610093 | OMIM:610125 | OMIM:611038 | OMIM:611040 | OMIM:611897 | OMIM:613094 | OMIM:613704 | OMIM:615972 |
MouseDO |
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NCBI chr 9:105,456,425...105,492,711
Ensembl chr 9:105,456,425...105,492,707
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G |
Shh |
sonic hedgehog signaling molecule |
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ISO |
CTD Direct Evidence: marker/mechanism|therapeutic |
CTD |
PMID:31690747 PMID:32472575 |
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NCBI chr 4:6,954,017...6,963,170
Ensembl chr 4:6,954,017...6,963,170
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G |
Six6 |
SIX homeobox 6 |
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ISO |
ClinVar Annotator: match by term: Anophthalmia - microphthalmia | ClinVar Annotator: match by term: Microphthalmos |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 6:91,634,568...91,639,548
Ensembl chr 6:91,634,568...91,639,548
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G |
Six6os1 |
Six6 opposite strand transcript 1 |
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ISO |
ClinVar Annotator: match by term: Anophthalmia - microphthalmia | ClinVar Annotator: match by term: Microphthalmos |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 6:91,579,185...91,615,183
Ensembl chr 6:91,579,325...91,615,148
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G |
Stau2 |
staufen double-stranded RNA binding protein 2 |
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IMP |
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RGD |
PMID:22940085 |
RGD:10043154 |
NCBI chr 5:2,840,801...3,084,451
Ensembl chr 5:2,840,765...3,084,929
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G |
Stra6 |
signaling receptor and transporter of retinol STRA6 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18316031 |
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NCBI chr 8:58,549,743...58,568,861
Ensembl chr 8:58,549,736...58,568,860
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G |
Tfap2a |
transcription factor AP-2 alpha |
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ISO |
ClinVar Annotator: match by term: Microphthalmos |
ClinVar |
PMID:25741868 |
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NCBI chr17:24,028,716...24,047,507
Ensembl chr17:24,024,432...24,047,507
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G |
Trpm3 |
transient receptor potential cation channel, subfamily M, member 3 |
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ISS |
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MouseDO |
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NCBI chr 1:219,673,200...220,557,610
Ensembl chr 1:219,672,892...220,560,717
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G |
Vsx2 |
visual system homeobox 2 |
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ISO |
ClinVar Annotator: match by term: Anophthalmia - microphthalmia | ClinVar Annotator: match by term: Microphthalmia | ClinVar Annotator: match by term: Microphthalmos |
ClinVar |
PMID:15257456 PMID:21976963 PMID:24033328 PMID:25741868 PMID:26893459 PMID:28492532 PMID:30181649 More...
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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 |
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 More...
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NCBI chr 9:111,243,445...111,387,272
Ensembl chr 9:111,247,702...111,349,665
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G |
Nhs |
NHS actin remodeling regulator |
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ISO |
ClinVar Annotator: match by term: CATARACT 40 WITH OR WITHOUT MICROCORNEA | ClinVar Annotator: match by term: Cataract 40 |
OMIM ClinVar |
PMID:19414485 PMID:23757202 PMID:25741868 PMID:28492532 |
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NCBI chr X:32,551,974...32,892,961
Ensembl chr X:32,552,026...32,889,992
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G |
Hdac6 |
histone deacetylase 6 |
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ISO |
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:14,550,645...14,572,445
Ensembl chr X:14,551,044...14,572,441
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G |
Mitf |
melanocyte inducing transcription factor |
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ISO |
ClinVar Annotator: match by term: Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness |
OMIM ClinVar |
PMID:27889061 PMID:30311386 PMID:34599368 |
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NCBI chr 4:130,409,020...130,621,145
Ensembl chr 4:130,409,217...130,621,145
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G |
Alx1 |
ALX homeobox 1 |
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ISO |
ClinVar Annotator: match by term: Frontonasal dysplasia 3 |
OMIM ClinVar |
PMID:20451171 PMID:24467814 PMID:27324866 PMID:28492532 |
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NCBI chr 7:38,157,626...38,177,220
Ensembl chr 7:38,147,117...38,177,220
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G |
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 |
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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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G |
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:16763960 PMID:17576681 PMID:17661815 PMID:18073582 PMID:18414213 PMID:18445044 PMID:18834967 PMID:21158681 PMID:21995344 PMID:22033296 PMID:22461308 PMID:22539353 PMID:23378218 PMID:23533228 PMID:24033266 PMID:24862881 PMID:25077900 PMID:25107291 PMID:25741868 PMID:25931334 PMID:25996639 PMID:26467025 PMID:28166811 PMID:28475860 PMID:28492532 PMID:29255181 PMID:29304373 PMID:29419413 PMID:30311386 PMID:31042289 PMID:32870266 More...
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NCBI chr 5:21,812,007...21,995,358
Ensembl chr 5:21,812,070...21,995,358
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G |
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 7:113,108,476...113,178,529
Ensembl chr 7:113,106,247...113,136,088 Ensembl chr 7:113,106,247...113,136,088
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G |
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 7:107,782,770...107,793,814
Ensembl chr 7:107,782,770...107,794,531
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G |
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 chr13:29,946,809...30,163,901
Ensembl chr13:29,946,809...30,163,574
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G |
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 6:124,914,770...124,981,508
Ensembl chr 6:124,914,855...124,981,436
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G |
Vsx2 |
visual system homeobox 2 |
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ISO |
ClinVar Annotator: match by term: Isolated microphthalmia 2 |
OMIM ClinVar |
PMID:3378363 PMID:10932181 PMID:11341888 PMID:15257456 PMID:17661825 PMID:20414678 PMID:21976963 PMID:23028343 PMID:24033328 PMID:25741868 PMID:26893459 PMID:26995144 PMID:27013732 PMID:28492532 PMID:30181649 More...
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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 |
Rax |
retina and anterior neural fold homeobox |
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ISO |
ClinVar Annotator: match by term: Isolated microphthalmia 3 |
OMIM ClinVar |
PMID:14662654 PMID:18783408 PMID:19158959 PMID:20494911 PMID:25741868 PMID:28492532 More...
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NCBI chr18:59,463,737...59,467,431
Ensembl chr18:59,463,737...59,467,431
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G |
Gdf6 |
growth differentiation factor 6 |
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ISO |
ClinVar Annotator: match by term: Isolated microphthalmia 4 |
OMIM ClinVar |
PMID:18425797 PMID:19129173 PMID:23307924 PMID:24033266 PMID:25741868 PMID:28492532 PMID:32737436 More...
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NCBI chr 5:22,996,246...23,012,567
Ensembl chr 5:22,996,246...23,012,567
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G |
C1qtnf5 |
C1q and TNF related 5 |
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ISO |
ClinVar Annotator: match by term: Isolated microphthalmia 5 | ClinVar Annotator: match by term: Posterior Microphthalmia with Retinitis Pigmentosa, Foveoschisis, and Optic Disc Drusen |
ClinVar |
PMID:1258954 PMID:9536098 PMID:12140190 PMID:15976030 PMID:16199547 PMID:17167404 PMID:17576681 PMID:18554571 PMID:18648522 PMID:19169412 PMID:19753314 PMID:20361016 PMID:21670352 PMID:22142163 PMID:22605927 PMID:22892318 PMID:23112574 PMID:23143909 PMID:23742260 PMID:24088041 PMID:24531000 PMID:25097241 PMID:25412400 PMID:25741868 PMID:26583794 PMID:26633545 PMID:28041643 PMID:28166811 PMID:28492532 PMID:29170418 PMID:29450879 PMID:30181649 PMID:30653986 PMID:32996714 PMID:33203948 More...
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NCBI chr 8:44,450,934...44,453,075
Ensembl chr 8:44,451,154...44,453,074
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G |
Mfrp |
membrane frizzled-related protein |
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ISO |
ClinVar Annotator: match by term: Isolated microphthalmia 5 | ClinVar Annotator: match by term: Posterior Microphthalmia with Retinitis Pigmentosa, Foveoschisis, and Optic Disc Drusen DNA:deletion,nonsense mutation:exons:p.N167TfsX25,p.Y317X(human) |
OMIM ClinVar RGD |
PMID:1258954 PMID:9536098 PMID:12140190 PMID:15976030 PMID:16199547 PMID:17167404 PMID:17576681 PMID:18554571 PMID:18648522 PMID:19169412 PMID:19753314 PMID:20361016 PMID:21670352 PMID:22142163 PMID:22605927 PMID:22892318 PMID:23112574 PMID:23143909 PMID:23742260 PMID:24088041 PMID:24531000 PMID:25097241 PMID:25412400 PMID:25741868 PMID:26583794 PMID:26633545 PMID:28041643 PMID:28166811 PMID:28492532 PMID:29170418 PMID:29450879 PMID:30181649 PMID:30653986 PMID:32996714 PMID:33203948 PMID:19753314 More...
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RGD:11553925 |
NCBI chr 8:44,445,636...44,450,859
Ensembl chr 8:44,445,697...44,450,859
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G |
C1qtnf5 |
C1q and TNF related 5 |
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ISO |
ClinVar Annotator: match by term: Isolated microphthalmia 6 |
ClinVar |
PMID:19169412 PMID:25741868 PMID:28492532 |
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NCBI chr 8:44,450,934...44,453,075
Ensembl chr 8:44,451,154...44,453,074
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G |
Chrnd |
cholinergic receptor nicotinic delta subunit |
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ISO |
ClinVar Annotator: match by term: Isolated microphthalmia 6 |
ClinVar |
PMID:19526372 PMID:21532570 PMID:24033266 PMID:28492532 |
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NCBI chr 9:87,862,417...87,870,833
Ensembl chr 9:87,862,407...87,870,833
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G |
Mfrp |
membrane frizzled-related protein |
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ISO |
ClinVar Annotator: match by term: Isolated microphthalmia 6 |
ClinVar |
PMID:19169412 PMID:25741868 PMID:28492532 |
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NCBI chr 8:44,445,636...44,450,859
Ensembl chr 8:44,445,697...44,450,859
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G |
Prss56 |
serine protease 56 |
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ISO |
ClinVar Annotator: match by term: Isolated microphthalmia 6 |
OMIM ClinVar |
PMID:15823920 PMID:19526372 PMID:21397065 PMID:21532570 PMID:21670352 PMID:21850159 PMID:22908982 PMID:23127749 PMID:24033266 PMID:24227917 PMID:25741868 PMID:28492532 PMID:31266062 PMID:31992737 PMID:32996714 More...
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NCBI chr 9:87,842,806...87,859,978
Ensembl chr 9:87,854,805...87,859,978
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G |
Vsx2 |
visual system homeobox 2 |
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ISO |
ClinVar Annotator: match by term: MICROPHTHALMIA, POSTERIOR NONSYNDROMIC |
ClinVar |
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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 |
Gdf3 |
growth differentiation factor 3 |
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ISO |
ClinVar Annotator: match by term: Isolated microphthalmia 7 |
OMIM ClinVar |
PMID:19864492 PMID:28492532 |
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NCBI chr 4:155,831,572...155,835,953
Ensembl chr 4:155,830,909...155,835,937
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G |
Aldh1a3 |
aldehyde dehydrogenase 1 family, member A3 |
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ISO |
ClinVar Annotator: match by term: Isolated microphthalmia 8 |
OMIM ClinVar |
PMID:23312594 PMID:23591992 PMID:24777706 PMID:25741868 PMID:26995144 PMID:28492532 More...
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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 |
Six6 |
SIX homeobox 6 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Cataract, microphthalmia and nystagmus |
CTD ClinVar |
PMID:15266624 PMID:23167593 PMID:24702266 PMID:25741868 PMID:28492532 |
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NCBI chr 6:91,634,568...91,639,548
Ensembl chr 6:91,634,568...91,639,548
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G |
Six6os1 |
Six6 opposite strand transcript 1 |
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ISO |
ClinVar Annotator: match by term: Cataract, microphthalmia and nystagmus |
ClinVar |
PMID:15266624 PMID:23167593 PMID:24702266 PMID:25741868 PMID:28492532 |
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NCBI chr 6:91,579,185...91,615,183
Ensembl chr 6:91,579,325...91,615,148
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G |
Cryba4 |
crystallin, beta A4 |
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ISO |
ClinVar Annotator: match by term: Microphthalmia, isolated, with cataract 4 |
ClinVar |
PMID:26694549 PMID:28492532 |
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NCBI chr12:44,378,734...44,393,226
Ensembl chr12:44,378,737...44,393,221
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G |
Rbp4 |
retinol binding protein 4 |
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ISO |
ClinVar Annotator: match by term: Microphthalmia, isolated, with coloboma 10 |
OMIM 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 |
Vsx2 |
visual system homeobox 2 |
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ISO |
ClinVar Annotator: match by term: Microphthalmia, isolated, with coloboma 3 |
OMIM ClinVar |
PMID:11341888 PMID:15257456 PMID:17661825 PMID:21976963 PMID:25606400 PMID:25741868 PMID:28492532 More...
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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 |
Shh |
sonic hedgehog signaling molecule |
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ISO |
ClinVar Annotator: match by term: Microphthalmia, isolated, with coloboma 5 |
OMIM ClinVar |
PMID:9302262 PMID:10556296 PMID:12503095 PMID:18414213 PMID:20425842 PMID:25741868 More...
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NCBI chr 4:6,954,017...6,963,170
Ensembl chr 4:6,954,017...6,963,170
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G |
Gdf3 |
growth differentiation factor 3 |
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ISO |
ClinVar Annotator: match by term: Microphthalmia, isolated, with coloboma 6 |
OMIM ClinVar |
PMID:19864492 PMID:24281366 PMID:25741868 |
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NCBI chr 4:155,831,572...155,835,953
Ensembl chr 4:155,830,909...155,835,937
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G |
Gdf6 |
growth differentiation factor 6 |
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ISO |
ClinVar Annotator: match by term: Microphthalmia, isolated, with coloboma 6 |
OMIM ClinVar |
PMID:18425797 PMID:19129173 PMID:19864492 PMID:23307924 PMID:24033266 PMID:25741868 PMID:28492532 PMID:32737436 More...
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NCBI chr 5:22,996,246...23,012,567
Ensembl chr 5:22,996,246...23,012,567
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G |
Abcb6 |
ATP binding cassette subfamily B member 6 |
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ISO |
ClinVar Annotator: match by term: Microphthalmia, isolated, with coloboma 7 |
OMIM ClinVar |
PMID:19504436 PMID:22226084 PMID:24281366 PMID:25741868 PMID:28492532 |
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NCBI chr 9:76,668,554...76,677,263
Ensembl chr 9:76,668,554...76,676,924
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G |
Tenm3 |
teneurin transmembrane protein 3 |
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ISO |
ClinVar Annotator: match by term: MICROPHTHALMIA, SYNDROMIC 15 | ClinVar Annotator: match by term: Microphthalmia, isolated, with coloboma 9 |
OMIM ClinVar |
PMID:22766609 PMID:25741868 PMID:27103084 PMID:28492532 PMID:29753094 PMID:30513139 More...
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NCBI chr16:41,251,909...43,978,594
Ensembl chr16:41,252,182...43,978,594
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G |
Cox7b |
cytochrome c oxidase subunit 7B |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr X:71,083,486...71,089,733
Ensembl chr X:71,083,456...71,089,732
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G |
Hccs |
holocytochrome c synthase |
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ISO |
ClinVar Annotator: match by term: Linear skin defects with multiple congenital anomalies 1 |
OMIM ClinVar |
PMID:16059943 PMID:17033964 PMID:25741868 |
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NCBI chr X:24,932,943...24,942,376
Ensembl chr X:24,933,002...24,942,366
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G |
Ndufb11 |
NADH:ubiquinone oxidoreductase subunit B11 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Linear skin defects with multiple congenital anomalies 1 |
CTD ClinVar |
PMID:25741868 PMID:25772934 |
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NCBI chr X:1,572,805...1,575,063
Ensembl chr X:1,572,785...1,575,062
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G |
Adamts18 |
ADAM metallopeptidase with thrombospondin type 1 motif, 18 |
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ISO |
ClinVar Annotator: match by term: Microcornea, myopic chorioretinal atrophy, and telecanthus |
OMIM ClinVar |
PMID:22686506 PMID:23818446 PMID:24874986 PMID:28492532 |
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NCBI chr19:41,686,951...41,840,035
Ensembl chr19:41,688,617...41,839,781
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G |
Smad4 |
SMAD family member 4 |
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ISO |
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RGD |
PMID:20735985 |
RGD:12880033 |
NCBI chr18:67,243,742...67,274,438
Ensembl chr18:67,243,742...67,274,438
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G |
Vsx2 |
visual system homeobox 2 |
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ISO |
ClinVar Annotator: match by term: Microphthalmia, cataracts, and iris abnormalities |
ClinVar |
PMID:10932181 PMID:11341888 PMID:17661825 PMID:23028343 PMID:25741868 PMID:27013732 PMID:28492532 More...
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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 |
C1qtnf5 |
C1q and TNF related 5 |
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ISO |
ClinVar Annotator: match by term: Nanophthalmia |
ClinVar |
PMID:25412400 PMID:26583794 PMID:28492532 PMID:29170418 PMID:30181649 |
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NCBI chr 8:44,450,934...44,453,075
Ensembl chr 8:44,451,154...44,453,074
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G |
Mfrp |
membrane frizzled-related protein |
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ISS ISO |
OMIM:600165 | OMIM:609549 | OMIM:611897 | OMIM:615972 ClinVar Annotator: match by term: Nanophthalmia |
MouseDO ClinVar |
PMID:25412400 PMID:26583794 PMID:28492532 PMID:29170418 PMID:30181649 |
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NCBI chr 8:44,445,636...44,450,859
Ensembl chr 8:44,445,697...44,450,859
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G |
Prss56 |
serine protease 56 |
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ISO |
ClinVar Annotator: match by term: Nanophthalmia |
ClinVar |
PMID:19526372 PMID:21397065 PMID:21532570 PMID:21670352 PMID:22908982 PMID:23127749 PMID:24033266 PMID:24227917 PMID:25741868 PMID:28492532 PMID:31266062 PMID:31992737 More...
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NCBI chr 9:87,842,806...87,859,978
Ensembl chr 9:87,854,805...87,859,978
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G |
Tmem98 |
transmembrane protein 98 |
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ISS |
OMIM:600165 | OMIM:609549 | OMIM:611897 | OMIM:615972 |
MouseDO |
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NCBI chr10:65,796,173...65,807,082
Ensembl chr10:65,796,145...65,807,079
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G |
Myrf |
myelin regulatory factor |
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ISO |
ClinVar Annotator: match by term: Nanophthalmos 1 |
ClinVar |
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NCBI chr 1:206,854,175...206,886,276
Ensembl chr 1:206,854,175...206,886,157
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G |
C1qtnf5 |
C1q and TNF related 5 |
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ISO |
ClinVar Annotator: match by term: Nanophthalmos 2 |
ClinVar |
PMID:1258954 PMID:12140190 PMID:15976030 PMID:17167404 PMID:18554571 PMID:19753314 PMID:20361016 PMID:22605927 PMID:23112574 PMID:23143909 PMID:28492532 PMID:32996714 More...
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NCBI chr 8:44,450,934...44,453,075
Ensembl chr 8:44,451,154...44,453,074
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G |
Mfrp |
membrane frizzled-related protein |
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ISO |
ClinVar Annotator: match by term: Nanophthalmos 2 |
OMIM ClinVar |
PMID:1258954 PMID:12140190 PMID:15976030 PMID:17167404 PMID:18554571 PMID:19753314 PMID:20361016 PMID:22605927 PMID:23112574 PMID:23143909 PMID:28492532 PMID:32996714 More...
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NCBI chr 8:44,445,636...44,450,859
Ensembl chr 8:44,445,697...44,450,859
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G |
Tmem98 |
transmembrane protein 98 |
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ISO |
ClinVar Annotator: match by term: Nanophthalmos 4 |
OMIM ClinVar |
PMID:24852644 PMID:26392740 |
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NCBI chr10:65,796,173...65,807,082
Ensembl chr10:65,796,145...65,807,079
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G |
Gja1 |
gap junction protein, alpha 1 |
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ISO |
ClinVar Annotator: match by term: Oculodentodigital dysplasia, autosomal recessive |
OMIM ClinVar |
PMID:2309863 PMID:11146471 PMID:11470490 PMID:12457340 PMID:14974090 PMID:14981729 PMID:15192806 PMID:15879313 PMID:16531323 PMID:16816024 PMID:17901047 PMID:18003637 PMID:18079109 PMID:18412120 PMID:18946008 PMID:19057520 PMID:19338053 PMID:19615768 PMID:21215473 PMID:21670345 PMID:22090377 PMID:22179534 PMID:22699666 PMID:23103513 PMID:23304551 PMID:23465283 PMID:23606748 PMID:23951358 PMID:25388818 PMID:25398053 PMID:25741868 PMID:27226478 PMID:28492532 PMID:30653986 More...
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NCBI chr20:35,756,007...35,768,481
Ensembl chr20:35,755,991...35,768,582
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G |
Tbc1d32 |
TBC1 domain family, member 32 |
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ISO |
ClinVar Annotator: match by term: Oculodentodigital dysplasia, autosomal recessive |
ClinVar |
PMID:28492532 |
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NCBI chr20:35,359,865...35,590,992
Ensembl chr20:35,359,863...35,590,415
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G |
Six6 |
SIX homeobox 6 |
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ISO |
ClinVar Annotator: match by term: OPTIC DISC ANOMALIES WITH RETINAL AND/OR MACULAR DYSTROPHY |
OMIM ClinVar |
PMID:15266624 PMID:23167593 PMID:24702266 PMID:25741868 PMID:28492532 |
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NCBI chr 6:91,634,568...91,639,548
Ensembl chr 6:91,634,568...91,639,548
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G |
Six6os1 |
Six6 opposite strand transcript 1 |
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ISO |
ClinVar Annotator: match by term: OPTIC DISC ANOMALIES WITH RETINAL AND/OR MACULAR DYSTROPHY |
ClinVar |
PMID:15266624 PMID:23167593 PMID:24702266 PMID:25741868 PMID:28492532 |
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NCBI chr 6:91,579,185...91,615,183
Ensembl chr 6:91,579,325...91,615,148
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G |
Bmp4 |
bone morphogenetic protein 4 |
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ISO |
ClinVar Annotator: match by term: Syndromic Microphthalmia, Dominant |
ClinVar |
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NCBI chr15:19,618,538...19,633,494
Ensembl chr15:19,618,542...19,623,306
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G |
Otx2 |
orthodenticle homeobox 2 |
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ISO |
ClinVar Annotator: match by term: Syndromic Microphthalmia, Dominant |
ClinVar |
PMID:28492532 |
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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 |
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: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 |
OMIM ClinVar |
PMID:1679229 PMID:11426460 PMID:16114045 PMID:24431331 PMID:25741868 PMID:30842225 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 |
Vax1 |
ventral anterior homeobox 1 |
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ISO |
ClinVar Annotator: match by term: Microphthalmia, syndromic 11 |
OMIM ClinVar |
PMID:22095910 PMID:28492532 |
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NCBI chr 1:258,324,571...258,342,396
Ensembl chr 1:258,326,276...258,330,192
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G |
Rarb |
retinoic acid receptor, beta |
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ISO |
ClinVar Annotator: match by term: Microphthalmia, syndromic 12 |
OMIM ClinVar |
PMID:17506106 PMID:24075189 PMID:25741868 PMID:27120018 PMID:28492532 |
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NCBI chr15:8,700,533...9,051,288
Ensembl chr15:8,406,492...9,051,288
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G |
Hmgb3 |
high mobility group box 3 |
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ISO |
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OMIM |
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NCBI chr X:149,296,309...149,301,294
Ensembl chr X:149,296,375...149,301,292
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G |
Lrba |
LPS responsive beige-like anchor protein |
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ISO |
ClinVar Annotator: match by term: Colobomatous microphthalmia-rhizomelic dysplasia syndrome |
ClinVar |
PMID:24906020 PMID:25719200 PMID:25741868 PMID:32860008 PMID:34008892 |
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NCBI chr 2:171,623,668...172,202,576
Ensembl chr 2:171,621,507...172,202,724
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G |
Mab21l2 |
mab-21 like 2 |
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ISO |
ClinVar Annotator: match by term: Colobomatous microphthalmia-rhizomelic dysplasia syndrome |
OMIM ClinVar |
PMID:24906020 PMID:25719200 PMID:25741868 PMID:32860008 PMID:34008892 |
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NCBI chr 2:171,946,573...171,949,655
Ensembl chr 2:171,946,573...171,949,655
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G |
Atp6ap2 |
ATPase H+ transporting accessory protein 2 |
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ISO |
ClinVar Annotator: match by term: Oculofaciocardiodental syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr X:10,183,983...10,210,948
Ensembl chr X:10,183,068...10,210,918
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G |
Bcor |
BCL6 co-repressor |
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ISO |
ClinVar Annotator: match by term: Oculofaciocardiodental syndrome CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:15004558 PMID:15770227 PMID:16829040 PMID:17517692 PMID:18414213 PMID:19367324 PMID:21740180 PMID:22983184 PMID:23815237 PMID:24728327 PMID:25326637 PMID:25620158 PMID:25741868 PMID:26694549 PMID:28317252 PMID:28492532 PMID:29058245 PMID:31048080 More...
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NCBI chr X:10,609,756...10,729,613
Ensembl chr X:10,687,732...10,729,613
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G |
Six6 |
SIX homeobox 6 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: SOX2-Related Eye Disorders |
CTD ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 6:91,634,568...91,639,548
Ensembl chr 6:91,634,568...91,639,548
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G |
Six6os1 |
Six6 opposite strand transcript 1 |
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ISO |
ClinVar Annotator: match by term: SOX2-Related Eye Disorders |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 6:91,579,185...91,615,183
Ensembl chr 6:91,579,325...91,615,148
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G |
Sox2 |
SRY-box transcription factor 2 |
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ISO |
ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome | ClinVar Annotator: match by term: SOX2-Related Eye Disorders |
OMIM ClinVar |
PMID:12002146 PMID:12612584 PMID:15346919 PMID:15389708 PMID:15812812 PMID:16145681 PMID:16283891 PMID:16470798 PMID:16543359 PMID:16712695 PMID:16892407 PMID:16932809 PMID:17219395 PMID:17522144 PMID:18285410 PMID:18385377 PMID:18831064 PMID:19254784 PMID:19921648 PMID:20803647 PMID:21326281 PMID:22171155 PMID:23701296 PMID:24804704 PMID:25542770 PMID:25741868 PMID:26250054 PMID:26938784 PMID:27206652 PMID:27427475 PMID:28121235 PMID:28492532 More...
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NCBI chr 2:117,536,929...117,539,338
Ensembl chr 2:117,536,929...117,539,338
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G |
Adam17 |
ADAM metallopeptidase domain 17 |
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ISO |
ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome |
ClinVar |
PMID:26893459 |
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NCBI chr 6:40,872,936...40,920,700
Ensembl chr 6:40,872,856...40,920,639
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G |
Arr3 |
arrestin 3 |
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ISO |
ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome |
ClinVar |
PMID:26893459 PMID:28492532 |
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NCBI chr X:65,699,881...65,712,224
Ensembl chr X:65,698,699...65,712,153
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G |
Cdh1 |
cadherin 1 |
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ISO |
ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome |
ClinVar |
PMID:21106365 PMID:24326041 PMID:24755471 PMID:25231023 PMID:25741868 PMID:25980754 PMID:26182300 PMID:26467025 PMID:26893459 PMID:27582386 PMID:27621404 PMID:28492532 PMID:29577179 PMID:30311375 More...
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NCBI chr19:34,492,371...34,561,775
Ensembl chr19:34,492,371...34,561,775
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G |
Cep83 |
centrosomal protein 83 |
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ISO |
ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome |
ClinVar |
PMID:26893459 |
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NCBI chr 7:29,280,358...29,389,574
Ensembl chr 7:29,280,419...29,389,574
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G |
Chrd |
chordin |
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ISO |
ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome |
ClinVar |
PMID:26893459 |
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NCBI chr11:80,171,994...80,181,166
Ensembl chr11:80,171,994...80,180,673
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G |
Cyp26c1 |
cytochrome P450, family 26, subfamily C, polypeptide 1 |
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ISO |
ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome |
ClinVar |
PMID:26893459 |
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NCBI chr 1:235,458,961...235,468,433
Ensembl chr 1:235,459,356...235,466,842
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G |
Dicer1 |
dicer 1 ribonuclease III |
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ISO |
ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome |
ClinVar |
PMID:26893459 PMID:28492532 |
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NCBI chr 6:123,627,529...123,692,278
Ensembl chr 6:123,631,250...123,693,965
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G |
Efhd1 |
EF-hand domain family, member D1 |
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ISO |
ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome |
ClinVar |
PMID:26893459 |
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NCBI chr 9:87,938,259...87,984,917
Ensembl chr 9:87,938,284...87,984,917
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G |
Elp4 |
elongator acetyltransferase complex subunit 4 |
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ISO |
ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome |
ClinVar |
PMID:28492532 |
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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 |
Fat4 |
FAT atypical cadherin 4 |
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ISO |
ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome |
ClinVar |
PMID:26893459 |
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NCBI chr 2:121,928,188...122,056,711
Ensembl chr 2:121,927,942...122,056,707
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G |
Fgfr3 |
fibroblast growth factor receptor 3 |
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ISO |
ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome |
ClinVar |
PMID:26467025 PMID:26893459 |
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NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
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G |
Fras1 |
Fraser extracellular matrix complex subunit 1 |
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ISO |
ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome |
ClinVar |
PMID:24700879 PMID:25353622 PMID:26893459 PMID:28492532 |
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NCBI chr14:12,791,407...13,200,862
Ensembl chr14:12,793,599...13,200,726
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G |
Gli2 |
GLI family zinc finger 2 |
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ISO |
ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome |
ClinVar |
PMID:26893459 PMID:28492532 |
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NCBI chr13:29,946,809...30,163,901
Ensembl chr13:29,946,809...30,163,574
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G |
Ift172 |
intraflagellar transport 172 |
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ISO |
ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome |
ClinVar |
PMID:26893459 PMID:28492532 |
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NCBI chr 6:25,081,933...25,121,271
Ensembl chr 6:25,081,980...25,120,860
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G |
Krtcap3 |
keratinocyte associated protein 3 |
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ISO |
ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome |
ClinVar |
PMID:26893459 |
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NCBI chr 6:25,120,938...25,122,522
Ensembl chr 6:25,120,938...25,122,507
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G |
Map3k1 |
mitogen-activated protein kinase kinase kinase 1 |
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ISO |
ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome |
ClinVar |
PMID:26893459 |
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NCBI chr 2:43,348,572...43,414,706
Ensembl chr 2:43,350,098...43,414,463
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Mitf |
melanocyte inducing transcription factor |
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ISO |
ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome |
ClinVar |
PMID:26893459 |
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NCBI chr 4:130,409,020...130,621,145
Ensembl chr 4:130,409,217...130,621,145
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Myo1c |
myosin 1C |
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ISO |
ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome |
ClinVar |
PMID:26893459 |
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NCBI chr10:60,498,374...60,520,752
Ensembl chr10:60,498,280...60,520,752
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Ndst2 |
N-deacetylase and N-sulfotransferase 2 |
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ISO |
ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome |
ClinVar |
PMID:26893459 |
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NCBI chr15:3,563,358...3,573,801
Ensembl chr15:3,563,358...3,573,801
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Notch1 |
notch receptor 1 |
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ISO |
ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome |
ClinVar |
PMID:26893459 PMID:28492532 |
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NCBI chr 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531
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Notch4 |
notch receptor 4 |
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ISO |
ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome |
ClinVar |
PMID:26893459 PMID:28492532 |
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NCBI chr20:4,160,362...4,184,466
Ensembl chr20:4,160,445...4,184,465
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Nr5a2 |
nuclear receptor subfamily 5, group A, member 2 |
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ISO |
ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome |
ClinVar |
PMID:26893459 |
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NCBI chr13:48,313,634...48,433,494
Ensembl chr13:48,316,301...48,433,326
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Otx2 |
orthodenticle homeobox 2 |
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ISO |
ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome | ClinVar Annotator: match by term: OTX2-Related Syndromic Microphthalmia | ClinVar Annotator: match by term: Syndromic microphthalmia type 5 |
OMIM ClinVar |
PMID:15846561 PMID:16607563 PMID:17541950 PMID:18628516 PMID:18781617 PMID:19956411 PMID:19965921 PMID:20396904 PMID:20486942 PMID:22577225 PMID:22715480 PMID:24033328 PMID:24167467 PMID:24498598 PMID:25293953 PMID:25326635 PMID:25741868 PMID:27299576 PMID:28166811 PMID:28492532 More...
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NCBI chr15:21,942,233...21,953,034
Ensembl chr15:21,943,191...21,953,416
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Pax6 |
paired box 6 |
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ISO |
ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome |
ClinVar |
PMID:9727514 PMID:12868034 PMID:15086958 PMID:16407227 PMID:17417613 PMID:18776953 PMID:25741868 PMID:26893459 PMID:28492532 More...
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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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Pfkp |
phosphofructokinase, platelet |
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ISO |
ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome |
ClinVar |
PMID:26893459 |
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NCBI chr17:63,729,743...63,794,021
Ensembl chr17:63,729,780...63,794,018
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Plxnc1 |
plexin C1 |
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ISO |
ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome |
ClinVar |
PMID:26893459 |
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NCBI chr 7:29,390,038...29,543,985
Ensembl chr 7:29,390,048...29,543,779
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Ptch1 |
patched 1 |
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ISO |
ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome |
ClinVar |
PMID:16231297 PMID:23334667 PMID:24728327 PMID:25567908 PMID:26467025 PMID:26559152 PMID:26802149 PMID:26893459 PMID:28492532 PMID:33729574 More...
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NCBI chr17:1,542,705...1,607,730
Ensembl chr17:1,542,877...1,607,333
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Rax |
retina and anterior neural fold homeobox |
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ISO |
ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome |
ClinVar |
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NCBI chr18:59,463,737...59,467,431
Ensembl chr18:59,463,737...59,467,431
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Rpgrip1 |
RPGR interacting protein 1 |
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ISO |
ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome |
ClinVar |
PMID:25741868 PMID:26893459 PMID:28492532 |
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NCBI chr15:24,814,576...24,867,522
Ensembl chr15:24,814,614...24,868,605
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Sall3 |
spalt-like transcription factor 3 |
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ISO |
ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome |
ClinVar |
PMID:26893459 |
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NCBI chr18:74,406,058...74,425,754
Ensembl chr18:74,407,560...74,426,789
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Sez6l2 |
seizure related 6 homolog like 2 |
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ISO |
ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome |
ClinVar |
PMID:26893459 |
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NCBI chr 1:181,557,109...181,577,456
Ensembl chr 1:181,557,109...181,577,456
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Sfrp2 |
secreted frizzled-related protein 2 |
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ISO |
ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome |
ClinVar |
PMID:26893459 |
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NCBI chr 2:169,089,517...169,097,064
Ensembl chr 2:169,089,517...169,097,063
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Six6 |
SIX homeobox 6 |
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ISO |
ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome |
ClinVar |
PMID:24875647 PMID:25741868 PMID:28492532 |
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NCBI chr 6:91,634,568...91,639,548
Ensembl chr 6:91,634,568...91,639,548
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Six6os1 |
Six6 opposite strand transcript 1 |
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ISO |
ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome |
ClinVar |
PMID:24875647 PMID:25741868 PMID:28492532 |
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NCBI chr 6:91,579,185...91,615,183
Ensembl chr 6:91,579,325...91,615,148
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Sox14 |
SRY-box transcription factor 14 |
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ISO |
ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome |
ClinVar |
PMID:26893459 |
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NCBI chr 8:100,421,982...100,423,918
Ensembl chr 8:100,421,982...100,423,918
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Stra6 |
signaling receptor and transporter of retinol STRA6 |
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ISO |
ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome |
ClinVar |
PMID:26893459 |
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NCBI chr 8:58,549,743...58,568,861
Ensembl chr 8:58,549,736...58,568,860
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Sulf1 |
sulfatase 1 |
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ISO |
ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome |
ClinVar |
PMID:26893459 |
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NCBI chr 5:6,362,896...6,526,174
Ensembl chr 5:6,362,911...6,525,584
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Tamalin |
trafficking regulator and scaffold protein tamalin |
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ISO |
ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome |
ClinVar |
PMID:26893459 |
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NCBI chr 7:132,338,900...132,359,519
Ensembl chr 7:132,338,900...132,346,666
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Tshz2 |
teashirt zinc finger homeobox 2 |
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ISO |
ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome |
ClinVar |
PMID:26893459 |
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NCBI chr 3:158,405,469...158,666,915
Ensembl chr 3:158,405,423...158,850,128
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Vax2 |
ventral anterior homeobox 2 |
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ISO |
ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome |
ClinVar |
PMID:26893459 |
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NCBI chr 4:116,195,576...116,219,597
Ensembl chr 4:116,195,528...116,219,594
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Vsx2 |
visual system homeobox 2 |
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ISO |
ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome |
ClinVar |
PMID:21976963 PMID:24033328 PMID:26893459 PMID:28492532 PMID:30181649 |
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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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Wnt7a |
Wnt family member 7A |
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ISO |
ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome |
ClinVar |
PMID:26893459 |
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NCBI chr 4:123,863,108...123,908,981
Ensembl chr 4:123,863,108...123,908,981
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Wnt7b |
Wnt family member 7B |
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ISO |
ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr 7:116,634,817...116,679,089
Ensembl chr 7:116,634,814...116,679,581
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Bmp4 |
bone morphogenetic protein 4 |
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ISO |
ClinVar Annotator: match by term: BMP4-Related Syndromic Microphthalmia | ClinVar Annotator: match by term: Microphthalmia with brain and digit anomalies |
OMIM ClinVar |
PMID:12404109 PMID:17003840 PMID:18252212 PMID:18305125 PMID:18771417 PMID:19249007 PMID:19557432 PMID:19685083 PMID:20949628 PMID:21340693 PMID:22052794 PMID:22978696 PMID:23227324 PMID:23841782 PMID:24429398 PMID:25741868 PMID:28166811 PMID:28492532 PMID:31063268 More...
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NCBI chr15:19,618,538...19,633,494
Ensembl chr15:19,618,542...19,623,306
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Cdkn3 |
cyclin-dependent kinase inhibitor 3 |
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ISO |
ClinVar Annotator: match by term: Microphthalmia with brain and digit anomalies |
ClinVar |
PMID:18252212 PMID:21340693 PMID:28492532 |
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NCBI chr15:20,022,522...20,033,948
Ensembl chr15:20,022,664...20,033,945
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Cgrrf1 |
cell growth regulator with ring finger domain 1 |
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ISO |
ClinVar Annotator: match by term: Microphthalmia with brain and digit anomalies |
ClinVar |
PMID:18252212 PMID:21340693 PMID:28492532 |
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NCBI chr15:20,088,564...20,109,042
Ensembl chr15:20,088,571...20,109,037
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Cnih1 |
cornichon family AMPA receptor auxiliary protein 1 |
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ISO |
ClinVar Annotator: match by term: Microphthalmia with brain and digit anomalies |
ClinVar |
PMID:18252212 PMID:21340693 PMID:28492532 |
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NCBI chr15:20,037,885...20,049,857
Ensembl chr15:20,037,885...20,049,761
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Gch1 |
GTP cyclohydrolase 1 |
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ISO |
ClinVar Annotator: match by term: Microphthalmia with brain and digit anomalies |
ClinVar |
PMID:18252212 PMID:21340693 PMID:28492532 |
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NCBI chr15:20,404,267...20,437,727
Ensembl chr15:20,402,527...20,437,698
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Gmfb |
glia maturation factor, beta |
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ISO |
ClinVar Annotator: match by term: Microphthalmia with brain and digit anomalies |
ClinVar |
PMID:18252212 PMID:21340693 PMID:28492532 |
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NCBI chr15:20,069,923...20,081,005
Ensembl chr15:20,067,263...20,080,331
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Samd4a |
sterile alpha motif domain containing 4A |
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ISO |
ClinVar Annotator: match by term: Microphthalmia with brain and digit anomalies |
ClinVar |
PMID:18252212 PMID:21340693 PMID:28492532 |
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NCBI chr15:20,135,994...20,352,131
Ensembl chr15:20,134,377...20,348,380
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Snx3 |
sorting nexin 3 |
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ISO |
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OMIM |
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NCBI chr20:45,992,446...46,025,361
Ensembl chr20:45,992,720...46,025,379
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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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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 |
CTD ClinVar OMIM |
PMID:9536098 PMID:11857549 PMID:16199547 PMID:17273977 PMID:17503335 PMID:17576681 PMID:18316031 PMID:19213032 PMID:19309693 PMID:19839040 PMID:22686418 PMID:25741868 PMID:26373900 PMID:28492532 PMID:30639323 More...
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NCBI chr 8:58,549,743...58,568,861
Ensembl chr 8:58,549,736...58,568,860
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Wnt7b |
Wnt family member 7B |
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ISO |
ClinVar Annotator: match by term: Matthew-Wood syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr 7:116,634,817...116,679,089
Ensembl chr 7:116,634,814...116,679,581
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