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G |
AHCTF1 |
AT-hook containing transcription factor 1 |
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ISO |
ClinVar Annotator: match by term: Strabismus |
ClinVar |
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NCBI chr 1:222,469,006...222,563,635
Ensembl chr 1:227,935,557...228,026,795
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BMP4 |
bone morphogenetic protein 4 |
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ISO |
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RGD |
PMID:14710472 |
RGD:8699500 |
NCBI chr14:34,542,132...34,549,286
Ensembl chr14:52,821,872...52,828,752
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G |
FOXP1 |
forkhead box P1 |
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ISO |
ClinVar Annotator: match by term: Strabismus |
ClinVar |
PMID:25741868 |
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NCBI chr 3:70,893,933...71,523,892
Ensembl chr 3:72,258,456...72,498,173
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GNB1 |
G protein subunit beta 1 |
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ISO |
ClinVar Annotator: match by term: Strabismus |
ClinVar |
PMID:9596582 PMID:24033266 PMID:25485910 PMID:25741868 PMID:25741901 PMID:27108799 PMID:27513193 PMID:28087732 PMID:28492532 PMID:30194818 PMID:31735425 PMID:32134617 PMID:32918542 PMID:32963807 PMID:35253369 PMID:36405774 More...
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NCBI chr 1:490,415...596,826
Ensembl chr 1:1,647,340...1,701,614
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G |
MED13L |
mediator complex subunit 13L |
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ISO |
ClinVar Annotator: match by term: Strabismus |
ClinVar |
PMID:25741868 |
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NCBI chr12:113,531,181...113,850,854
Ensembl chr12:116,909,244...117,065,649
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G |
NF1 |
neurofibromin 1 |
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ISO |
ClinVar Annotator: match by term: Strabismus |
ClinVar |
PMID:21520333 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29089047 PMID:33471991 More...
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NCBI chr17:25,425,081...25,703,689
Ensembl chr17:26,160,855...26,439,295
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G |
OLFM3 |
olfactomedin 3 |
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ISO |
ClinVar Annotator: match by term: Strabismus, susceptibility to |
ClinVar |
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NCBI chr 1:104,451,488...104,651,208
Ensembl chr 1:103,168,819...103,364,306
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G |
PTPN11 |
protein tyrosine phosphatase non-receptor type 11 |
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ISO |
ClinVar Annotator: match by term: Strabismus |
ClinVar |
PMID:15985475 PMID:17020470 PMID:17546245 PMID:18470943 PMID:19077116 PMID:20186801 PMID:21590266 PMID:22465605 PMID:22781091 PMID:23624134 PMID:24033266 PMID:25741868 PMID:28492532 PMID:29493581 More...
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NCBI chr12:110,016,364...110,107,462
Ensembl chr12:113,435,669...113,503,762
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G |
QARS1 |
glutaminyl-tRNA synthetase 1 |
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ISO |
ClinVar Annotator: match by term: Strabismus |
ClinVar |
PMID:25741868 PMID:28492532 PMID:30755392 PMID:31618474 |
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NCBI chr 3:49,020,310...49,029,443
Ensembl chr 3:50,100,216...50,125,112
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G |
SMARCA4 |
SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 |
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ISO |
ClinVar Annotator: match by term: Strabismus |
ClinVar |
PMID:25741868 |
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NCBI chr19:10,515,216...10,616,155
Ensembl chr19:11,250,006...11,334,952
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G |
SOX3 |
SRY-box transcription factor 3 |
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ISO |
ClinVar Annotator: match by term: Strabismus |
ClinVar |
PMID:23757202 PMID:25741868 PMID:28492532 |
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NCBI chr X:129,654,296...129,656,446
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G |
SOX5 |
SRY-box transcription factor 5 |
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ISO |
ClinVar Annotator: match by term: Strabismus |
ClinVar |
PMID:25741868 |
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NCBI chr12:62,361,631...62,780,805
Ensembl chr12:64,971,818...65,388,694
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G |
STXBP1 |
syntaxin binding protein 1 |
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ISO |
ClinVar Annotator: match by term: Strabismus |
ClinVar |
PMID:20887364 PMID:22612257 PMID:25741868 PMID:25758715 PMID:25818041 PMID:26384463 PMID:26865513 PMID:27779742 PMID:28492532 PMID:30185235 PMID:30842647 More...
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NCBI chr 9:98,731,527...98,811,608
Ensembl chr 9:127,434,080...127,486,152
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G |
TMCO1 |
transmembrane and coiled-coil domains 1 |
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ISO |
ClinVar Annotator: match by term: Strabismus |
ClinVar |
PMID:25741868 PMID:30755392 PMID:31102500 PMID:32214227 |
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NCBI chr 1:141,159,657...141,201,018
Ensembl chr 1:144,944,105...144,989,794
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G |
COLEC11 |
collectin subfamily member 11 |
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ISO |
ClinVar Annotator: match by term: 3MC syndrome 2 | ClinVar Annotator: match by term: COLEC11-related condition |
OMIM ClinVar |
PMID:2569826 PMID:8933348 PMID:21258343 PMID:25741868 PMID:28301481 PMID:28492532 More...
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NCBI chr2A:3,610,679...3,659,739
Ensembl chr2A:3,529,358...3,579,517
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G |
MASP1 |
MBL associated serine protease 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21258343 |
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NCBI chr 3:184,241,611...184,317,272
Ensembl chr 3:192,707,784...192,782,196
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G |
SLC26A2 |
solute carrier family 26 member 2 |
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ISO |
ClinVar Annotator: match by term: OSA syndrome |
ClinVar |
PMID:7695699 PMID:7923357 PMID:8218237 PMID:8528239 PMID:8571951 PMID:8931695 PMID:9342225 PMID:10465113 PMID:10482955 PMID:11241838 PMID:11303514 PMID:11448940 PMID:11565064 PMID:12525546 PMID:12966518 PMID:15294877 PMID:15316973 PMID:16642506 PMID:18708426 PMID:18925670 PMID:19344236 PMID:20219950 PMID:20301483 PMID:20301493 PMID:20301524 PMID:20525296 PMID:21077202 PMID:21077204 PMID:21155763 PMID:21922596 PMID:22052783 PMID:23840040 PMID:24033266 PMID:24598000 PMID:25741868 PMID:27065010 PMID:28492532 PMID:29024831 More...
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NCBI chr 5:145,385,433...145,412,180
Ensembl chr 5:151,391,842...151,412,676
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G |
AP4M1 |
adaptor related protein complex 4 subunit mu 1 |
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ISO |
ClinVar Annotator: match by term: Alazami-Yuan syndrome | ClinVar Annotator: match by term: TAF6-related condition |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 7:92,137,085...92,142,756
Ensembl chr 7:105,570,205...105,575,971
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G |
LARP7 |
La ribonucleoprotein 7, transcriptional regulator |
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ISO |
ClinVar Annotator: match by term: Alazami-Yuan syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr 4:105,128,335...105,149,498
Ensembl chr 4:115,698,093...115,711,003
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G |
TAF6 |
TATA-box binding protein associated factor 6 |
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ISO |
ClinVar Annotator: match by term: Alazami-Yuan syndrome | ClinVar Annotator: match by term: TAF6-related condition |
OMIM ClinVar |
PMID:11295558 PMID:25558065 PMID:25574841 PMID:25741868 PMID:28492532 |
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NCBI chr 7:92,142,646...92,154,951
Ensembl chr 7:105,575,861...105,588,142
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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 I | ClinVar Annotator: match by term: Blepharophimosis, ptosis, epicanthus inversus type 1 |
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:21325395 PMID:25741868 PMID:28492532 PMID:28849110 PMID:30029625 PMID:30198434 PMID:31048069 PMID:31077882 PMID:33538981 More...
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NCBI chr 3:135,968,040...135,980,063
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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 3:135,968,040...135,980,063
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G |
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 3:136,394,480...136,426,544
Ensembl chr 3:143,994,312...144,020,117
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G |
FOXL2 |
forkhead box L2 |
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ISO |
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 ClinVar |
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 More...
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NCBI chr 3:135,968,040...135,980,063
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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 3:136,380,963...136,394,148
Ensembl chr 3:143,980,670...143,993,842
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G |
MAFB |
MAF bZIP transcription factor B |
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ISO |
ClinVar Annotator: match by term: Brown syndrome |
ClinVar |
PMID:25741868 PMID:39033378 |
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NCBI chr20:37,023,988...37,027,446
Ensembl chr20:38,127,722...38,128,693
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G |
TOGARAM1 |
TOG array regulator of axonemal microtubules 1 |
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ISO |
ClinVar Annotator: match by term: Brown syndrome |
ClinVar |
PMID:25741868 PMID:39033378 |
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NCBI chr14:25,579,069...25,691,273
Ensembl chr14:43,907,049...44,018,042
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G |
TUBB4A |
tubulin beta 4A class IVa |
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ISO |
ClinVar Annotator: match by term: Brown syndrome |
ClinVar |
PMID:25741868 PMID:39033378 |
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NCBI chr19:5,521,425...5,529,958
Ensembl chr19:6,441,323...6,451,785
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G |
ROBO3 |
roundabout guidance receptor 3 |
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ISO |
ClinVar Annotator: match by term: Conjugate gaze palsy |
ClinVar |
PMID:15105459 PMID:16525029 PMID:21850172 PMID:25741868 PMID:32373565 PMID:34374989 More...
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NCBI chr11:119,692,232...119,708,309
Ensembl chr11:123,607,268...123,623,356
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G |
ACTR1B |
actin related protein 1B |
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ISO |
ClinVar Annotator: match by term: Duane retraction syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr2A:101,659,316...101,667,402
Ensembl chr2A:98,555,298...98,563,389
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G |
CHN1 |
chimerin 1 |
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ISO |
ClinVar Annotator: match by term: Duane retraction syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr2B:62,074,405...62,283,013
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G |
COL7A1 |
collagen type VII alpha 1 chain |
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ISO |
ClinVar Annotator: match by term: Duane retraction syndrome |
ClinVar |
PMID:7695699 PMID:8218237 PMID:11167698 PMID:19344236 PMID:21448560 PMID:22058051 PMID:25741868 PMID:27746867 PMID:28492532 More...
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NCBI chr 3:48,485,922...48,518,036
Ensembl chr 3:49,568,163...49,598,919
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G |
CUX1 |
cut like homeobox 1 |
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ISO |
ClinVar Annotator: match by term: Duane retraction syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr 7:93,954,599...94,432,697
Ensembl chr 7:107,191,124...107,609,940
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G |
FER |
FER tyrosine kinase |
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ISO |
ClinVar Annotator: match by term: Duane retraction syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr 5:104,099,620...104,548,077
Ensembl chr 5:109,964,823...110,350,576
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G |
FOXL2 |
forkhead box L2 |
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ISO |
ClinVar Annotator: match by term: Duane retraction syndrome |
ClinVar |
PMID:25741868 PMID:39033378 |
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NCBI chr 3:135,968,040...135,980,063
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G |
GNAS |
GNAS complex locus |
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ISO |
ClinVar Annotator: match by term: Duane anomaly | ClinVar Annotator: match by term: Duane retraction syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr20:55,190,607...55,262,245
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G |
KIF5C |
kinesin family member 5C |
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ISO |
ClinVar Annotator: match by term: Duane retraction syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr2B:10,836,356...10,987,683
Ensembl chr2B:153,235,329...153,387,221
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G |
MAFB |
MAF bZIP transcription factor B |
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ISO |
CTD Direct Evidence: marker/mechanism OMIM:126800 | OMIM:604356 |
CTD MouseDO |
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NCBI chr20:37,023,988...37,027,446
Ensembl chr20:38,127,722...38,128,693
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G |
PTPN11 |
protein tyrosine phosphatase non-receptor type 11 |
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ISO |
ClinVar Annotator: match by term: Duane retraction syndrome |
ClinVar |
PMID:25741868 PMID:39033378 |
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NCBI chr12:110,016,364...110,107,462
Ensembl chr12:113,435,669...113,503,762
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G |
SALL4 |
spalt like transcription factor 4 |
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ISO |
DNA:duplication:cds:c.410dupG (human) DNA:snps, deletions, insertion:multiple (human) CTD Direct Evidence: marker/mechanism DNA:deletions, nonsense mutation:cds:c.1904delT, c.2425delG, p.R865X (human) DNA:nonsense mutation:cds:p.R905X (human) DNA:frameshift mutation:cds:p.M640IfsX25 (human) |
RGD CTD |
PMID:12393809 PMID:12395297 PMID:16402211 PMID:16411190 PMID:17216607 PMID:23687435 PMID:26791099 PMID:30067223 More...
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RGD:11532205 RGD:11556210 RGD:11556211 RGD:11556215 RGD:11556231 RGD:11556232 |
NCBI chr20:48,130,387...48,150,569
Ensembl chr20:49,254,039...49,273,589
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G |
TUBA8 |
tubulin alpha 8 |
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ISO |
ClinVar Annotator: match by term: Duane retraction syndrome |
ClinVar |
PMID:25741868 PMID:39033378 |
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NCBI chr22:1,541,154...1,561,852
Ensembl chr22:16,936,405...16,989,730
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G |
MAFB |
MAF bZIP transcription factor B |
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ISO |
ClinVar Annotator: match by term: Duane syndrome type 1 |
ClinVar |
PMID:27181683 |
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NCBI chr20:37,023,988...37,027,446
Ensembl chr20:38,127,722...38,128,693
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G |
CHN1 |
chimerin 1 |
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ISO |
ClinVar Annotator: match by term: CHN1-related condition | ClinVar Annotator: match by term: Duane retraction syndrome 2 |
OMIM ClinVar |
PMID:10577917 PMID:10942112 PMID:17197532 PMID:18653847 PMID:20535495 PMID:21555619 PMID:25741868 PMID:28492532 PMID:39033378 More...
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NCBI chr2B:62,074,405...62,283,013
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G |
MAFB |
MAF bZIP transcription factor B |
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ISO |
ClinVar Annotator: match by term: Duane retraction syndrome 3 | ClinVar Annotator: match by term: Duane retraction syndrome 3 with or without deafness |
OMIM ClinVar |
PMID:20436469 PMID:24989131 PMID:25741868 PMID:27181683 PMID:28492532 |
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NCBI chr20:37,023,988...37,027,446
Ensembl chr20:38,127,722...38,128,693
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G |
TFAP2A |
transcription factor AP-2 alpha |
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ISO |
ClinVar Annotator: match by term: Esotropia |
ClinVar |
PMID:25741868 |
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NCBI chr 6:10,237,834...10,260,843
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G |
AUTS2 |
activator of transcription and developmental regulator AUTS2 |
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ISO |
ClinVar Annotator: match by term: concomitant exotropia |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 7:64,822,964...66,015,831
Ensembl chr 7:77,495,909...78,686,763
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G |
CDH3 |
cadherin 3 |
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ISO |
ClinVar Annotator: match by term: concomitant exotropia |
ClinVar |
PMID:28492532 |
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NCBI chr16:49,015,115...49,071,903
Ensembl chr16:68,407,625...68,465,287
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G |
COL4A2 |
collagen type IV alpha 2 chain |
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ISO |
ClinVar Annotator: match by term: concomitant exotropia |
ClinVar |
PMID:28492532 |
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NCBI chr13:91,440,314...91,650,138
Ensembl chr13:110,563,119...110,767,530
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G |
LOC100976978 |
E3 ubiquitin-protein ligase HERC2 |
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ISO |
ClinVar Annotator: match by term: concomitant exotropia |
ClinVar |
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NCBI chr15:1,590,558...1,800,023
Ensembl chr15:25,536,483...25,746,074
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G |
LOXHD1 |
lipoxygenase homology PLAT domains 1 |
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ISO |
ClinVar Annotator: match by term: concomitant exotropia |
ClinVar |
PMID:24033266 PMID:26467025 PMID:28492532 PMID:29799290 PMID:30311386 |
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NCBI chr18:39,756,531...39,936,317
Ensembl chr18:43,290,579...43,469,921
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G |
POMGNT2 |
protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) |
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ISO |
ClinVar Annotator: match by term: concomitant exotropia |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 3:42,973,492...42,997,288
Ensembl chr 3:44,035,815...44,037,557
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G |
SOBP |
sine oculis binding protein homolog |
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ISO |
ClinVar Annotator: match by term: Intellectual disability, anterior maxillary protrusion, and strabismus | ClinVar Annotator: match by term: SOBP-related condition |
OMIM ClinVar |
PMID:17618476 PMID:18414213 PMID:21035105 PMID:25741868 PMID:28492532 |
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NCBI chr 6:105,302,531...105,472,674
Ensembl chr 6:109,168,069...109,337,549
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