RGD DISEASE ONTOLOGY - ANNOTATIONS
RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
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Actc1
actin, alpha, cardiac muscle 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20835239
NCBI chr 3:100,811,987...100,817,523
Ensembl chr 3:100,811,987...100,817,523
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Gjd2
gap junction protein, delta 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20835239
NCBI chr 3:100,771,450...100,776,134
Ensembl chr 3:100,772,062...100,775,061
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Rasgrf1
RAS protein-specific guanine nucleotide-releasing factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20835236
NCBI chr 8:90,445,154...90,574,274
Ensembl chr 8:90,445,154...90,574,269
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Colec11
collectin sub-family member 11
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: 3MC syndrome 2
OMIM CTD ClinVar
PMID:2569826 PMID:8933348 PMID:21258343 PMID:25741868 PMID:28301481 PMID:28492532 More...
NCBI chr 6:45,223,974...45,256,640
Ensembl chr 6:45,223,980...45,271,145
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Masp1
MBL associated serine protease 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21258343
NCBI chr11:77,334,794...77,405,271
Ensembl chr11:77,334,859...77,402,974
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Slc26a2
solute carrier family 26 member 2
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...
NCBI chr18:54,648,276...54,666,627
Ensembl chr18:54,652,951...54,666,626
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Ap4m1
adaptor related protein complex 4 subunit mu 1
ISO
ClinVar Annotator: match by term: Alazami-Yuan syndrome
ClinVar
PMID:25741868 PMID:28492532
NCBI chr12:17,049,766...17,055,954
Ensembl chr12:17,049,777...17,058,026
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Larp7
La ribonucleoprotein 7, transcriptional regulator
ISO
ClinVar Annotator: match by term: Alazami-Yuan syndrome
ClinVar
PMID:25741868
NCBI chr 2:215,997,641...216,012,833
Ensembl chr 2:215,997,649...216,012,865
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Taf6
TATA-box binding protein associated factor 6
ISO
ClinVar Annotator: match by term: Alazami-Yuan syndrome
OMIM ClinVar
PMID:11295558 PMID:25558065 PMID:25574841 PMID:25741868 PMID:28492532
NCBI chr12:17,055,864...17,064,244
Ensembl chr12:17,055,873...17,064,247
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Pten
phosphatase and tensin homolog
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9286463
NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838
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Ankrd11
ankyrin repeat domain containing 11
ISO
ClinVar Annotator: match by term: Astigmatism
ClinVar
NCBI chr19:50,940,284...51,098,962
Ensembl chr19:50,940,299...51,098,962
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Grin2b
glutamate ionotropic receptor NMDA type subunit 2B
ISO
ClinVar Annotator: match by term: Astigmatism
ClinVar
PMID:25741868 PMID:28377535 PMID:28492532 PMID:34160719
NCBI chr 4:168,580,824...169,044,110
Ensembl chr 4:168,599,546...169,042,279
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Mcm7
minichromosome maintenance complex component 7
ISO
ClinVar Annotator: match by term: Astigmatism
ClinVar
PMID:25741868 PMID:33654309
NCBI chr12:17,042,207...17,049,470
Ensembl chr12:17,042,212...17,050,063
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Phf3
PHD finger protein 3
ISO
ClinVar Annotator: match by term: Astigmatism
ClinVar
PMID:25741868
NCBI chr 9:33,063,855...33,136,013
Ensembl chr 9:33,063,857...33,135,994
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Sclt1
sodium channel and clathrin linker 1
ISO
ClinVar Annotator: match by term: Astigmatism
ClinVar
NCBI chr 2:124,605,445...124,763,964
Ensembl chr 2:124,605,658...124,764,065
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Slc9a6
solute carrier family 9 member A6
ISO
ClinVar Annotator: match by term: Astigmatism
ClinVar
PMID:25741868
NCBI chr X:134,430,677...134,486,747
Ensembl chr X:134,420,756...134,485,375
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Zbtb10
zinc finger and BTB domain containing 10
ISO
ClinVar Annotator: match by term: Astigmatism
ClinVar
PMID:25741868
NCBI chr 2:92,475,254...92,509,892
Ensembl chr 2:92,479,014...92,512,515
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Foxl2
forkhead box L2
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE I | ClinVar Annotator: match by term: Blepharophimosis, ptosis, epicanthus inversus type 1
CTD ClinVar
PMID:11175783 PMID:11468277 PMID:11776388 PMID:12400065 PMID:12529855 PMID:12567411 PMID:12630957 PMID:12938087 PMID:16219626 PMID:17089161 PMID:17277738 PMID:18372316 PMID:20429427 PMID:21325395 PMID:21889601 PMID:25741868 PMID:28492532 PMID:28849110 PMID:30029625 PMID:30198434 PMID:31048069 PMID:31077882 PMID:33538981 More...
NCBI chr 8:99,512,971...99,514,500
Ensembl chr 8:99,513,303...99,514,427
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Foxl2
forkhead box L2
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...
NCBI chr 8:99,512,971...99,514,500
Ensembl chr 8:99,513,303...99,514,427
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Copb2
COPI coat complex subunit beta 2
ISO
ClinVar Annotator: match by term: Blepharophimosis, ptosis, and epicanthus inversus syndrome
ClinVar
NCBI chr 8:99,161,324...99,183,452
Ensembl chr 8:99,161,350...99,185,197
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Foxl2
forkhead box L2
ISO ISS
DNA:mutations:multiple (human) ClinVar Annotator: match by term: Blepharophimosis, ptosis, and epicanthus inversus | ClinVar Annotator: match by term: Blepharophimosis, ptosis, and epicanthus inversus syndrome OMIM:110100 CTD Direct Evidence: marker/mechanism
ClinVar MouseDO CTD OMIM RGD
PMID:11175783 PMID:11468277 PMID:11776388 PMID:12149404 PMID:12161610 PMID:12400065 PMID:12529855 PMID:12630957 PMID:12938087 PMID:16283882 PMID:17277738 PMID:18372316 PMID:18484667 PMID:18635577 PMID:18642388 PMID:19010791 PMID:19429596 PMID:19515849 PMID:21325395 PMID:22159675 PMID:22312189 PMID:23441113 PMID:25741868 PMID:26323275 PMID:27914838 PMID:28492532 PMID:28849110 PMID:30029625 PMID:30198434 PMID:31048069 PMID:31077882 PMID:31366388 PMID:32454486 PMID:33538981 PMID:33796131 PMID:36338666 PMID:39033378 PMID:11175783 More...
RGD:1598958
NCBI chr 8:99,512,971...99,514,500
Ensembl chr 8:99,513,303...99,514,427
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Mrps22
mitochondrial ribosomal protein S22
ISO
ClinVar Annotator: match by term: Blepharophimosis, ptosis, and epicanthus inversus syndrome
ClinVar
NCBI chr 8:99,184,110...99,197,278
Ensembl chr 8:99,184,109...99,197,291
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Mafb
MAF bZIP transcription factor B
ISO
ClinVar Annotator: match by term: Brown syndrome
ClinVar
PMID:25741868 PMID:39033378
NCBI chr 3:148,998,111...149,000,031
Ensembl chr 3:148,998,122...149,000,031
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Togaram1
TOG array regulator of axonemal microtubules 1
ISO
ClinVar Annotator: match by term: Brown syndrome
ClinVar
PMID:25741868 PMID:39033378
NCBI chr 6:83,019,025...83,083,343
Ensembl chr 6:83,018,859...83,082,807
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Tubb4a
tubulin, beta 4A class IVa
ISO
ClinVar Annotator: match by term: Brown syndrome
ClinVar
PMID:25741868 PMID:39033378
NCBI chr 9:1,917,841...1,925,286
Ensembl chr 9:1,917,845...1,925,291
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Ankrd46
ankyrin repeat domain 46
ISO
ClinVar Annotator: match by term: Cohen syndrome
ClinVar
PMID:28492532
NCBI chr 7:67,647,202...67,668,180
Ensembl chr 7:67,647,204...67,668,132
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Atp6v1c1
ATPase H+ transporting V1 subunit C1
ISO
ClinVar Annotator: match by term: Cohen syndrome
ClinVar
PMID:28492532
NCBI chr 7:69,834,464...69,872,278
Ensembl chr 7:69,834,463...69,872,278
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Azin1
antizyme inhibitor 1
ISO
ClinVar Annotator: match by term: Cohen syndrome
ClinVar
PMID:28492532
NCBI chr 7:69,654,773...69,681,578
Ensembl chr 7:69,654,663...69,681,578
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Baalc
BAALC binder of MAP3K1 and KLF4
ISO
ClinVar Annotator: match by term: Cohen syndrome
ClinVar
PMID:28492532
NCBI chr 7:69,918,998...69,992,289
Ensembl chr 7:69,918,998...69,992,288
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Cox6c
cytochrome c oxidase subunit 6C
ISO
ClinVar Annotator: match by term: Cohen syndrome
ClinVar
PMID:28492532
NCBI chr 7:67,129,265...67,142,001
Ensembl chr 7:67,111,024...67,141,963
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Cthrc1
collagen triple helix repeat containing 1
ISO
ClinVar Annotator: match by term: Cohen syndrome
ClinVar
PMID:28492532
NCBI chr 7:70,122,474...70,132,756
Ensembl chr 7:70,122,474...70,132,756
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Dcaf13
DDB1 and CUL4 associated factor 13
ISO
ClinVar Annotator: match by term: Cohen syndrome
ClinVar
PMID:28492532
NCBI chr 7:70,160,983...70,196,142
Ensembl chr 7:70,160,941...70,196,142
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Dcstamp
dendrocyte expressed seven transmembrane protein
ISO
ClinVar Annotator: match by term: Cohen syndrome
ClinVar
PMID:28492532
NCBI chr 7:70,807,455...70,822,067
Ensembl chr 7:70,807,581...70,822,078
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Dpys
dihydropyrimidinase
ISO
ClinVar Annotator: match by term: Cohen syndrome
ClinVar
PMID:28492532
NCBI chr 7:70,822,648...70,929,255
Ensembl chr 7:70,835,789...70,929,231
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Fbxo43
F-box protein 43
ISO
ClinVar Annotator: match by term: Cohen syndrome
ClinVar
PMID:28492532
NCBI chr 7:67,333,161...67,346,751
Ensembl chr 7:67,333,162...67,346,751
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Fzd6
frizzled class receptor 6
ISO
ClinVar Annotator: match by term: Cohen syndrome
ClinVar
PMID:28492532
NCBI chr 7:70,055,012...70,086,781
Ensembl chr 7:70,055,068...70,086,776
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Grhl2
grainyhead-like transcription factor 2
ISO
ClinVar Annotator: match by term: Cohen syndrome
ClinVar
PMID:28492532
NCBI chr 7:68,400,287...68,530,269
Ensembl chr 7:68,400,477...68,530,258
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Kcns2
potassium voltage-gated channel, modifier subfamily S, member 2
ISO
ClinVar Annotator: match by term: Cohen syndrome
ClinVar
PMID:15141358 PMID:16648375 PMID:20461111 PMID:28492532
NCBI chr 7:66,022,352...66,028,422
Ensembl chr 7:66,022,352...66,028,422
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Klf10
KLF transcription factor 10
ISO
ClinVar Annotator: match by term: Cohen syndrome
ClinVar
PMID:28492532
NCBI chr 7:69,467,658...69,473,726
Ensembl chr 7:69,465,619...69,473,994
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Lrp12
LDL receptor related protein 12
ISO
ClinVar Annotator: match by term: Cohen syndrome
ClinVar
PMID:28492532
NCBI chr 7:70,941,068...71,012,409
Ensembl chr 7:70,941,068...71,012,441
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Mir875
microRNA 875
ISO
ClinVar Annotator: match by term: Cohen syndrome
ClinVar
PMID:15141358 PMID:16648375 PMID:20461111 PMID:28492532
NCBI chr 7:66,861,955...66,862,027
Ensembl chr 7:66,861,955...66,862,027
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Myo7a
myosin VIIA
ISO
ClinVar Annotator: match by term: Cohen syndrome
ClinVar
PMID:9382091 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532
NCBI chr 1:152,342,611...152,414,171
Ensembl chr 1:152,344,448...152,414,157
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Ncald
neurocalcin delta
ISO
ClinVar Annotator: match by term: Cohen syndrome
ClinVar
PMID:28492532
NCBI chr 7:68,532,671...68,964,740
Ensembl chr 7:68,534,421...68,964,496
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Nipal2
NIPA-like domain containing 2
ISO
ClinVar Annotator: match by term: Cohen syndrome
ClinVar
PMID:28492532
NCBI chr 7:65,774,477...65,884,807
Ensembl chr 7:65,774,477...65,884,807
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Odf1
outer dense fiber of sperm tails 1
ISO
ClinVar Annotator: match by term: Cohen syndrome
ClinVar
PMID:28492532
NCBI chr 7:69,377,427...69,389,662
Ensembl chr 7:69,380,116...69,389,664
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Osr2
odd-skipped related transciption factor 2
ISO
ClinVar Annotator: match by term: Cohen syndrome
ClinVar
PMID:15141358 PMID:16648375 PMID:20461111 PMID:28492532
NCBI chr 7:66,487,841...66,495,003
Ensembl chr 7:66,487,839...66,495,224
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Pabpc1
poly(A) binding protein, cytoplasmic 1
ISO
ClinVar Annotator: match by term: Cohen syndrome
ClinVar
PMID:28492532
NCBI chr 7:67,777,438...67,789,731
Ensembl chr 7:67,777,381...67,789,744
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Polr2k
RNA polymerase II, I and III subunit K
ISO
ClinVar Annotator: match by term: Cohen syndrome
ClinVar
PMID:28492532
NCBI chr 7:67,347,118...67,359,466
Ensembl chr 7:67,356,113...67,357,668
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Pop1
POP1 homolog, ribonuclease P/MRP subunit
ISO
ClinVar Annotator: match by term: Cohen syndrome
ClinVar
PMID:28492532
NCBI chr 7:65,705,348...65,733,143
Ensembl chr 7:65,705,368...65,733,141
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Rgs22
regulator of G-protein signaling 22
ISO
ClinVar Annotator: match by term: Cohen syndrome
ClinVar
PMID:28492532
NCBI chr 7:67,188,531...67,308,805
Ensembl chr 7:67,188,519...67,308,875
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Rims2
regulating synaptic membrane exocytosis 2
ISO
ClinVar Annotator: match by term: Cohen syndrome
ClinVar
PMID:28492532
NCBI chr 7:70,248,104...70,759,134
Ensembl chr 7:70,243,872...70,757,491
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Rnf19a
ring finger protein 19A, RBR E3 ubiquitin protein ligase
ISO
ClinVar Annotator: match by term: Cohen syndrome
ClinVar
PMID:28492532
NCBI chr 7:67,425,833...67,465,214
Ensembl chr 7:67,425,837...67,465,222
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Rrm2b
ribonucleotide reductase regulatory TP53 inducible subunit M2B
ISO
ClinVar Annotator: match by term: Cohen syndrome
ClinVar
PMID:28492532
NCBI chr 7:69,077,024...69,108,742
Ensembl chr 7:69,078,291...69,108,633
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Slc25a32
solute carrier family 25 member 32
ISO
ClinVar Annotator: match by term: Cohen syndrome
ClinVar
PMID:28492532
NCBI chr 7:70,142,958...70,160,726
Ensembl chr 7:70,142,964...70,160,770
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Snx31
sorting nexin 31
ISO
ClinVar Annotator: match by term: Cohen syndrome
ClinVar
PMID:28492532
NCBI chr 7:67,676,514...67,776,925
Ensembl chr 7:67,676,524...67,732,086
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Spag1
sperm associated antigen 1
ISO
ClinVar Annotator: match by term: Cohen syndrome | ClinVar Annotator: match by term: VPS13B-related condition
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 7:67,361,474...67,421,369
Ensembl chr 7:67,361,477...67,421,368
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Stk3
serine/threonine kinase 3
ISO
ClinVar Annotator: match by term: Cohen syndrome
ClinVar
PMID:15141358 PMID:16648375 PMID:20461111 PMID:28492532
NCBI chr 7:66,053,209...66,323,292
Ensembl chr 7:66,052,345...66,323,233
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Ubr5
ubiquitin protein ligase E3 component n-recognin 5
ISO
ClinVar Annotator: match by term: Cohen syndrome
ClinVar
PMID:28492532
NCBI chr 7:69,115,216...69,224,843
Ensembl chr 7:69,116,761...69,224,903
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Vps13b
vacuolar protein sorting 13 homolog B
ISO ISS
ClinVar Annotator: match by term: Cohen syndrome | ClinVar Annotator: match by term: Pepper syndrome | ClinVar Annotator: match by term: VPS13B-related condition OMIM:216550 CTD Direct Evidence: marker/mechanism
OMIM ClinVar MouseDO CTD
PMID:9536098 PMID:11169562 PMID:12730828 PMID:15141358 PMID:15154116 PMID:15173253 PMID:15211651 PMID:15498460 PMID:15691367 PMID:15918062 PMID:16199547 PMID:16648375 PMID:16917849 PMID:17383910 PMID:17576681 PMID:17786118 PMID:17990063 PMID:18414213 PMID:18655112 PMID:19006247 PMID:19190672 PMID:19533689 PMID:19763152 PMID:20307669 PMID:20461111 PMID:20656880 PMID:20683995 PMID:20921020 PMID:21330571 PMID:21659346 PMID:21850686 PMID:21865173 PMID:22382802 PMID:22406018 PMID:22527104 PMID:22700954 PMID:22855652 PMID:23033978 PMID:23188044 PMID:23352163 PMID:23757202 PMID:24033266 PMID:24311531 PMID:24334746 PMID:24334764 PMID:25060287 PMID:25326635 PMID:25356970 PMID:25472526 PMID:25502226 PMID:25525159 PMID:25533962 PMID:25640679 PMID:25741868 PMID:26104215 PMID:26133662 PMID:26395554 PMID:26443248 PMID:26467025 PMID:26539891 PMID:26938784 PMID:27175599 PMID:27353947 PMID:27380831 PMID:27533158 PMID:27829003 PMID:28041643 PMID:28341476 PMID:28492532 PMID:28559085 PMID:28631888 PMID:28832562 PMID:29149870 PMID:29431110 PMID:29453417 PMID:29634382 PMID:29706646 PMID:29758347 PMID:30138938 PMID:30290665 PMID:30602132 PMID:30792901 PMID:30843084 PMID:31444703 PMID:31580008 PMID:31736247 PMID:31943017 PMID:31965297 PMID:32170714 PMID:32384097 PMID:32483926 PMID:32505691 PMID:32581362 PMID:32860008 PMID:32919079 PMID:32959227 PMID:33023636 PMID:33025479 PMID:33217554 PMID:33994118 PMID:34006472 PMID:34353225 PMID:34425733 PMID:35052368 PMID:35599849 PMID:35690661 More...
NCBI chr 7:66,557,862...67,128,429
Ensembl chr 7:66,558,471...67,128,429
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Ywhaz
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta
ISO
ClinVar Annotator: match by term: Cohen syndrome
ClinVar
PMID:28492532
NCBI chr 7:67,941,353...67,963,651
Ensembl chr 7:67,940,017...67,963,668
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Zfp706
zinc finger protein 706
ISO
ClinVar Annotator: match by term: Cohen syndrome
ClinVar
PMID:28492532
NCBI chr 7:68,167,496...68,174,121
Ensembl chr 7:68,166,323...68,174,148
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Zfpm2
zinc finger protein, multitype 2
ISO
ClinVar Annotator: match by term: Cohen syndrome
ClinVar
PMID:28492532
NCBI chr 7:71,678,658...72,116,209
Ensembl chr 7:71,678,880...72,116,205
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Abca4
ATP binding cassette subfamily A member 4
ISO
ClinVar Annotator: match by term: Congenital stationary night blindness
ClinVar
PMID:12515255 PMID:28041643
NCBI chr 2:210,164,813...210,302,069
Ensembl chr 2:210,164,813...210,302,069
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Cabp4
calcium binding protein 4
ISO
ClinVar Annotator: match by term: Congenital Stationary Night Blindness, Recessive | ClinVar Annotator: match by term: Congenital stationary night blindness
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 1:201,428,671...201,442,950
Ensembl chr 1:201,428,672...201,433,172
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Cacna1f
calcium voltage-gated channel subunit alpha1 F
ISO IAGP
ClinVar Annotator: match by term: Congenital stationary night blindness DNA:mutation:cds: c.2941C>T (rat) CTD Direct Evidence: marker/mechanism
ClinVar CTD RGD
PMID:9662399 PMID:9662400 PMID:11281458 PMID:12111638 PMID:17525176 PMID:17949918 PMID:22194652 PMID:24124559 PMID:25307992 PMID:25741868 PMID:26992781 PMID:28041643 PMID:28492532 PMID:30825406 PMID:31456290 PMID:31651202 PMID:12111638 PMID:18246026 More...
RGD:734671 , RGD:13782370
NCBI chr X:14,868,096...14,896,413
Ensembl chr X:14,868,024...14,896,413
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Cacna1f csnb
calcium voltage-gated channel subunit alpha1 F; congenital stationary night blindness mutant
IAGP
DNA:mutation:cds: c.2941C>T (rat)
RGD
PMID:18246026
RGD:13782370
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Cd63
Cd63 molecule
ISO
ClinVar Annotator: match by term: Congenital stationary night blindness
ClinVar
PMID:10369264 PMID:10617778 PMID:11053295 PMID:11078852 PMID:11675386 PMID:15007239 PMID:15302662 PMID:15790919 PMID:17476461 PMID:18949499 PMID:20829743 PMID:21529959 PMID:25741868 PMID:28492532 PMID:36909829 More...
NCBI chr 7:1,325,108...1,340,447
Ensembl chr 7:1,325,103...1,399,178
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Gnat1
G protein subunit alpha transducin 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Congenital Stationary Night Blindness, Dominant
CTD ClinVar
PMID:25741868
NCBI chr 8:108,350,935...108,355,671
Ensembl chr 8:108,350,935...108,355,671
G
Gnb3
G protein subunit beta 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 4:157,639,468...157,645,171
Ensembl chr 4:157,639,469...157,645,173
G
Gpr179
G protein-coupled receptor 179
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Congenital Stationary Night Blindness, Recessive | ClinVar Annotator: match by term: Congenital stationary night blindness
CTD ClinVar
PMID:22325361 PMID:22325362 PMID:24033266 PMID:25741868 PMID:28041643 PMID:28492532 More...
NCBI chr10:82,324,568...82,340,448
Ensembl chr10:82,337,771...82,340,448
G
Grk1
G protein-coupled receptor kinase 1
ISO
ClinVar Annotator: match by term: Congenital stationary night blindness
ClinVar
PMID:30718709
NCBI chr16:76,122,501...76,135,792
Ensembl chr16:76,123,842...76,135,792
G
Grm6
glutamate metabotropic receptor 6
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Congenital stationary night blindness
CTD ClinVar
PMID:15781871 PMID:16249515 PMID:16622103 PMID:17405131 PMID:19666700 PMID:22008250 PMID:24715752 PMID:25741868 PMID:26628857 PMID:28041643 PMID:28492532 PMID:30718709 PMID:32531858 More...
NCBI chr10:35,167,985...35,182,717
Ensembl chr10:35,167,985...35,182,717
G
Lrit3
leucine-rich repeat, Ig-like and transmembrane domains 3
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Congenital Stationary Night Blindness, Recessive
CTD ClinVar
PMID:25741868 PMID:28492532
NCBI chr 2:218,337,215...218,360,318
Ensembl chr 2:218,337,819...218,357,307
G
Nlrp9
NLR family, pyrin domain containing 9
ISO
ClinVar Annotator: match by term: Congenital stationary night blindness
ClinVar
PMID:25741868
NCBI chr 1:68,291,180...68,341,512
Ensembl chr 1:68,291,180...68,341,512
G
Nyx
nyctalopin
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Congenital stationary night blindness | ClinVar Annotator: match by term: Hemeralopia-myopia | ClinVar Annotator: match by term: X-linked congenital stationary night blindness
CTD ClinVar
PMID:17392683 PMID:23406521 PMID:25307992 PMID:25741868 PMID:28492532 PMID:31456290 More...
NCBI chr X:9,280,864...9,301,900
Ensembl chr X:9,280,864...9,301,900
G
Pde6b
phosphodiesterase 6B
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Congenital Stationary Night Blindness, Dominant | ClinVar Annotator: match by term: Congenital stationary night blindness
CTD ClinVar
PMID:8075643 PMID:28492532 PMID:30718709
NCBI chr14:1,323,310...1,366,450
Ensembl chr14:1,323,310...1,366,450
G
Rdh5
retinol dehydrogenase 5
ISO
ClinVar Annotator: match by term: Congenital stationary night blindness
ClinVar
PMID:10369264 PMID:10617778 PMID:11053295 PMID:11078852 PMID:11675386 PMID:15007239 PMID:15302662 PMID:15790919 PMID:17476461 PMID:18949499 PMID:20829743 PMID:21529959 PMID:25741868 PMID:28492532 PMID:36909829 More...
NCBI chr 7:1,341,172...1,346,863
Ensembl chr 7:1,340,934...1,351,558
G
Rho
rhodopsin
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Congenital Stationary Night Blindness, Dominant
CTD ClinVar
PMID:8358437 PMID:25741868 PMID:28492532
NCBI chr 4:148,975,597...148,988,693
Ensembl chr 4:148,980,611...148,985,773
G
Rlbp1
retinaldehyde binding protein 1
ISO
ClinVar Annotator: match by term: Congenital stationary night blindness
ClinVar
PMID:25741868 PMID:28492532 PMID:36909829
NCBI chr 1:133,308,920...133,322,296
Ensembl chr 1:133,308,938...133,322,296
G
Rpgr
retinitis pigmentosa GTPase regulator
ISO
ClinVar Annotator: match by term: Congenital stationary night blindness
ClinVar
PMID:28041643
NCBI chr X:12,566,447...12,628,171
Ensembl chr X:12,566,645...12,747,882
G
Sag
S-antigen visual arrestin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:7670478
NCBI chr 9:88,467,797...88,508,821
Ensembl chr 9:88,469,376...88,508,820
G
Slc24a1
solute carrier family 24 member 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Congenital Stationary Night Blindness, Recessive
CTD ClinVar
PMID:28492532
NCBI chr 8:65,440,842...65,466,001
Ensembl chr 8:65,440,730...65,466,001
G
Trpm1
transient receptor potential cation channel, subfamily M, member 1
ISO
DNA:mutations:exon, intron:multiple (human) ClinVar Annotator: match by term: Congenital Stationary Night Blindness, Recessive | ClinVar Annotator: match by term: Congenital stationary night blindness CTD Direct Evidence: marker/mechanism DNA:mutations:multiple (human) DNA:deletion, missense mutations:cds:multiple (human)
ClinVar CTD RGD
PMID:9536098 PMID:17576681 PMID:19878917 PMID:19896113 PMID:19966281 PMID:20300565 PMID:25741868 PMID:27803854 PMID:28041643 PMID:28492532 PMID:29074561 PMID:33691579 PMID:19878917 PMID:19896113 PMID:19896109 More...
RGD:7175555 , RGD:7183085 , RGD:7183084
NCBI chr 1:117,718,896...117,835,434
Ensembl chr 1:117,718,896...117,834,605
G
Trpv3
transient receptor potential cation channel, subfamily V, member 3
ISO
DNA:mutations:multiple (human)
RGD
PMID:19878917
RGD:7175555
NCBI chr10:57,883,546...57,915,865
Ensembl chr10:57,883,546...57,913,296
G
Ush2a
usherin
ISO
ClinVar Annotator: match by term: Congenital stationary night blindness
ClinVar
PMID:9624053 PMID:10090909 PMID:10729113 PMID:10909849 PMID:11402400 PMID:12112664 PMID:12525556 PMID:14970843 PMID:15025721 PMID:15325563 PMID:15326663 PMID:17405132 PMID:18641288 PMID:19881469 PMID:20145675 PMID:20301515 PMID:20507924 PMID:22135276 PMID:23924366 PMID:24033266 PMID:24160897 PMID:24607488 PMID:24944099 PMID:25097241 PMID:25404053 PMID:25649381 PMID:25741868 PMID:26629787 PMID:26633545 PMID:26872967 PMID:28041643 PMID:28492532 PMID:29953849 PMID:30718709 PMID:31836858 PMID:34906470 PMID:36011334 PMID:36909829 More...
NCBI chr13:99,837,445...100,503,935
Ensembl chr13:99,837,445...100,503,922
G
Znf454
zinc finger protein 454
ISO
ClinVar Annotator: match by term: Congenital stationary night blindness
ClinVar
PMID:15781871 PMID:16622103 PMID:22008250 PMID:24715752 PMID:25741868 PMID:26628857 PMID:28492532 PMID:30718709 More...
NCBI chr10:35,183,729...35,200,450
Ensembl chr10:35,185,028...35,245,505
G
Nyx
nyctalopin
ISO ISS
OMIM:310500 ClinVar Annotator: match by term: Congenital stationary night blindness 1A | ClinVar Annotator: match by term: NYX-related condition
OMIM MouseDO ClinVar
PMID:11062471 PMID:11062472 PMID:16670814 PMID:17392683 PMID:19578023 PMID:23406521 PMID:25741868 PMID:28492532 More...
NCBI chr X:9,280,864...9,301,900
Ensembl chr X:9,280,864...9,301,900
G
Gpr179
G protein-coupled receptor 179
ISO
ClinVar Annotator: match by term: Congenital stationary night blindness 1B
ClinVar
PMID:25741868
NCBI chr10:82,324,568...82,340,448
Ensembl chr10:82,337,771...82,340,448
G
Grm6
glutamate metabotropic receptor 6
ISO ISS
ClinVar Annotator: match by term: Congenital stationary night blindness 1B | ClinVar Annotator: match by term: NIGHT BLINDNESS, CONGENITAL STATIONARY, COMPLETE, AUTOSOMAL RECESSIVE OMIM:257270
OMIM ClinVar MouseDO
PMID:11874764 PMID:15781871 PMID:16249515 PMID:16622103 PMID:17405131 PMID:19578023 PMID:19666700 PMID:19862333 PMID:22008250 PMID:22735794 PMID:25307992 PMID:25741868 PMID:26628857 PMID:26667666 PMID:28041643 PMID:28492532 PMID:30718709 PMID:32531858 More...
NCBI chr10:35,167,985...35,182,717
Ensembl chr10:35,167,985...35,182,717
G
Znf454
zinc finger protein 454
ISO
ClinVar Annotator: match by term: Congenital stationary night blindness 1B | ClinVar Annotator: match by term: NIGHT BLINDNESS, CONGENITAL STATIONARY, COMPLETE, AUTOSOMAL RECESSIVE
ClinVar
PMID:11874764 PMID:15781871 PMID:16249515 PMID:16622103 PMID:17405131 PMID:19666700 PMID:19862333 PMID:22008250 PMID:22735794 PMID:25307992 PMID:25741868 PMID:26628857 PMID:26667666 PMID:28492532 PMID:30718709 More...
NCBI chr10:35,183,729...35,200,450
Ensembl chr10:35,185,028...35,245,505
G
Gnat1
G protein subunit alpha transducin 1
ISO
ClinVar Annotator: match by term: Congenital stationary night blindness 1C
ClinVar
PMID:25741868
NCBI chr 8:108,350,935...108,355,671
Ensembl chr 8:108,350,935...108,355,671
G
Grm6
glutamate metabotropic receptor 6
ISO
ClinVar Annotator: match by term: Congenital stationary night blindness 1C
ClinVar
PMID:25741868
NCBI chr10:35,167,985...35,182,717
Ensembl chr10:35,167,985...35,182,717
G
Mir211
microRNA 211
ISO
ClinVar Annotator: match by term: Congenital stationary night blindness 1C
ClinVar
PMID:25741868
NCBI chr 1:117,777,539...117,777,644
Ensembl chr 1:117,777,539...117,777,644
G
Nyx
nyctalopin
ISO
ClinVar Annotator: match by term: Congenital stationary night blindness 1C
ClinVar
PMID:25741868 PMID:28492532
NCBI chr X:9,280,864...9,301,900
Ensembl chr X:9,280,864...9,301,900
G
Trpm1
transient receptor potential cation channel, subfamily M, member 1
ISO ISS
ClinVar Annotator: match by term: Congenital stationary night blindness 1C | ClinVar Annotator: match by term: TRPM1-related condition OMIM:613216
OMIM ClinVar MouseDO
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19436059 PMID:19878917 PMID:19896109 PMID:19896113 PMID:19966281 PMID:20300565 PMID:22277662 PMID:25307992 PMID:25741868 PMID:25999674 PMID:26493165 PMID:26872967 PMID:27803854 PMID:28492532 PMID:28559085 PMID:28838317 PMID:29522070 PMID:30718709 PMID:31908403 PMID:33691579 PMID:35457050 PMID:35633130 More...
NCBI chr 1:117,718,896...117,835,434
Ensembl chr 1:117,718,896...117,834,605
G
Slc24a1
solute carrier family 24 member 1
ISO ISS
OMIM:613830 ClinVar Annotator: match by term: Congenital stationary night blindness 1D
OMIM MouseDO ClinVar
PMID:9536098 PMID:12037007 PMID:16199547 PMID:17576681 PMID:20850105 PMID:25741868 PMID:26822852 PMID:28492532 PMID:30902645 More...
NCBI chr 8:65,440,842...65,466,001
Ensembl chr 8:65,440,730...65,466,001
G
Gpr179
G protein-coupled receptor 179
ISO ISS
ClinVar Annotator: match by term: Congenital stationary night blindness 1E | ClinVar Annotator: match by term: GPR179-related condition OMIM:614565
OMIM ClinVar MouseDO
PMID:22325361 PMID:22325362 PMID:23714322 PMID:24033266 PMID:24222301 PMID:25741868 PMID:26355662 PMID:28041643 PMID:28492532 PMID:30718709 More...
NCBI chr10:82,324,568...82,340,448
Ensembl chr10:82,337,771...82,340,448
G
Lrit3
leucine-rich repeat, Ig-like and transmembrane domains 3
ISO ISS
ClinVar Annotator: match by term: Congenital stationary night blindness 1F OMIM:615058
OMIM ClinVar MouseDO
PMID:22673519 PMID:23246293 PMID:24598786 PMID:25741868 PMID:28492532 PMID:31964843 More...
NCBI chr 2:218,337,215...218,360,318
Ensembl chr 2:218,337,819...218,357,307
G
Gnat1
G protein subunit alpha transducin 1
ISO
ClinVar Annotator: match by term: Congenital stationary night blindness 1G
OMIM ClinVar
PMID:11095744 PMID:22190596 PMID:25741868 PMID:26472407 PMID:27624628 PMID:28492532 PMID:31736247 More...
NCBI chr 8:108,350,935...108,355,671
Ensembl chr 8:108,350,935...108,355,671
G
Cdca3
cell division cycle associated 3
ISO
ClinVar Annotator: match by term: Congenital stationary night blindness 1H
ClinVar
PMID:9425898 PMID:10477144 PMID:10523525 PMID:10770297 PMID:10770309 PMID:10770310 PMID:11322952 PMID:12668921 PMID:25741868 PMID:27063057 PMID:28492532 More...
NCBI chr 4:157,634,775...157,638,799
Ensembl chr 4:157,634,928...157,638,799
G
Gnb3
G protein subunit beta 3
susceptibility
ISO
ClinVar Annotator: match by term: Congenital stationary night blindness 1H
ClinVar OMIM
PMID:9425898 PMID:10477144 PMID:10523525 PMID:10770297 PMID:10770309 PMID:10770310 PMID:11322952 PMID:12668921 PMID:25741868 PMID:27063057 PMID:28492532 More...
NCBI chr 4:157,639,468...157,645,171
Ensembl chr 4:157,639,469...157,645,173
G
Gucy2e
guanylate cyclase 2E
ISO
ClinVar Annotator: match by term: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1I
OMIM ClinVar
PMID:10766140 PMID:10951519 PMID:11328726 PMID:16505055 PMID:17724218 PMID:17964524 PMID:20050595 PMID:23035049 PMID:25477517 PMID:25741868 PMID:26253563 PMID:26626312 PMID:28492532 PMID:29061346 PMID:29559409 PMID:30319355 PMID:30718709 PMID:32821499 PMID:33109612 PMID:34008892 More...
NCBI chr10:53,954,918...53,975,576
Ensembl chr10:53,959,010...53,974,067
G
Cacna1f
calcium voltage-gated channel subunit alpha1 F
ISO ISS
ClinVar Annotator: match by term: Congenital stationary night blindness 2A | ClinVar Annotator: match by term: Congenital stationary night blindness, type 2A, severe | ClinVar Annotator: match by term: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2 OMIM:300071
OMIM ClinVar MouseDO
PMID:9529339 PMID:9662399 PMID:9662400 PMID:10900517 PMID:11281458 PMID:12111638 PMID:12187427 PMID:12719097 PMID:15807819 PMID:15897456 PMID:16199547 PMID:17525176 PMID:17949918 PMID:19578023 PMID:22183355 PMID:22194652 PMID:23714322 PMID:24033266 PMID:24051672 PMID:24124559 PMID:25307992 PMID:25741868 PMID:26747767 PMID:26992781 PMID:28002560 PMID:28041643 PMID:28492532 PMID:28838317 PMID:30576320 PMID:30653986 PMID:30718709 PMID:30825406 PMID:33037074 PMID:36909829 More...
NCBI chr X:14,868,096...14,896,413
Ensembl chr X:14,868,024...14,896,413
G
Cabp4
calcium binding protein 4
ISO
ClinVar Annotator: match by term: Cone-rod synaptic disorder, congenital nonprogressive
OMIM ClinVar
PMID:16960802 PMID:19074807 PMID:20157620 PMID:23099293 PMID:23714322 PMID:25258313 PMID:25307992 PMID:25741868 PMID:26234941 PMID:28041643 PMID:28341476 PMID:28492532 PMID:29525873 PMID:29706639 PMID:30718709 More...
NCBI chr 1:201,428,671...201,442,950
Ensembl chr 1:201,428,672...201,433,172
G
Gpr152
G protein-coupled receptor 152
ISO
ClinVar Annotator: match by term: Cone-rod synaptic disorder, congenital nonprogressive
ClinVar
PMID:25741868
NCBI chr 1:201,435,878...201,438,373
Ensembl chr 1:201,435,884...201,437,443
G
Rho
rhodopsin
ISO ISS
OMIM:610445 ClinVar Annotator: match by term: Congenital stationary night blindness autosomal dominant 1 | ClinVar Annotator: match by term: NIGHT BLINDNESS, CONGENITAL STATIONARY, RHODOPSIN-RELATED CTD Direct Evidence: marker/mechanism
OMIM MouseDO ClinVar CTD
PMID:1418997 PMID:1987955 PMID:1987956 PMID:2137202 PMID:2239971 PMID:2509724 PMID:7846071 PMID:7981701 PMID:8081400 PMID:8088850 PMID:8107847 PMID:8317502 PMID:8358437 PMID:9050844 PMID:9380676 PMID:9618546 PMID:9810568 PMID:9888392 PMID:10521250 PMID:10967073 PMID:11139241 PMID:11879142 PMID:12091393 PMID:12860986 PMID:12871954 PMID:14769795 PMID:14971589 PMID:15126168 PMID:15509574 PMID:16123440 PMID:17488458 PMID:18175313 PMID:18987202 PMID:19913029 PMID:19933196 PMID:20591486 PMID:20805032 PMID:21094163 PMID:21219898 PMID:22110080 PMID:22164218 PMID:22321012 PMID:22323724 PMID:22995991 PMID:24760071 PMID:24853414 PMID:25097241 PMID:25741868 PMID:26202387 PMID:26962691 PMID:27458239 PMID:28341476 PMID:28492532 PMID:28559085 PMID:29847639 PMID:30240733 PMID:30718709 PMID:30977563 PMID:31054281 PMID:31319082 PMID:33347869 PMID:33669941 PMID:36909829 More...
NCBI chr 4:148,975,597...148,988,693
Ensembl chr 4:148,980,611...148,985,773
G
Pde6b
phosphodiesterase 6B
ISO ISS
ClinVar Annotator: match by term: Congenital stationary night blindness autosomal dominant 2 OMIM:163500 CTD Direct Evidence: marker/mechanism
OMIM ClinVar MouseDO CTD
PMID:7724547 PMID:8075643 PMID:8394174 PMID:8595886 PMID:9536098 PMID:16199547 PMID:17044014 PMID:17576681 PMID:18723146 PMID:22334370 PMID:24033266 PMID:24938718 PMID:25097241 PMID:25741868 PMID:26868535 PMID:27588261 PMID:28041643 PMID:28130426 PMID:28224992 PMID:28492532 PMID:28559085 PMID:28912962 PMID:30029497 PMID:30718709 PMID:30924848 PMID:30998820 PMID:31630094 PMID:31877679 PMID:33090715 PMID:33576794 PMID:33691693 PMID:34906470 PMID:36819107 More...
NCBI chr14:1,323,310...1,366,450
Ensembl chr14:1,323,310...1,366,450
G
Slc24a1
solute carrier family 24 member 1
ISO
ClinVar Annotator: match by term: Congenital stationary night blindness autosomal dominant 2 | ClinVar Annotator: match by term: NIGHT BLINDNESS, CONGENITAL STATIONARY, RAMBUSCH TYPE
ClinVar
PMID:12037007 PMID:20850105 PMID:25741868 PMID:26822852 PMID:28492532
NCBI chr 8:65,440,842...65,466,001
Ensembl chr 8:65,440,730...65,466,001
G
Gnat1
G protein subunit alpha transducin 1
ISO
ClinVar Annotator: match by term: Congenital stationary night blindness autosomal dominant 3 | ClinVar Annotator: match by term: NIGHT BLINDNESS, CONGENITAL STATIONARY, NOUGARET TYPE CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:8673138 PMID:11095744 PMID:17584859 PMID:25741868 PMID:28492532 PMID:31736247 More...
NCBI chr 8:108,350,935...108,355,671
Ensembl chr 8:108,350,935...108,355,671
G
Lrp2
LDL receptor related protein 2
ISS
MouseDO
NCBI chr 3:54,189,305...54,346,769
Ensembl chr 3:54,189,308...54,346,708
G
RT1-Bb
RT1 class II, locus Bb
susceptibility
ISO
DNA:polymorphisms:cds:multiple (human)
RGD
PMID:11864433 PMID:10887689
RGD:7421542 , RGD:7483572
NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
G
Lmbrd1
LMBR1 domain containing 1
ISO
ClinVar Annotator: match by term: Donnai-Barrow syndrome
ClinVar
PMID:19136951 PMID:25741868 PMID:28492532
NCBI chr 9:27,096,387...27,178,095
Ensembl chr 9:27,096,297...27,178,090
G
Lrp2
LDL receptor related protein 2
ISO ISS
ClinVar Annotator: match by term: Diaphragmatic hernia exomphalos absent corpus callosum hypertelorism myopia sensorineural deafness and proteinuria | ClinVar Annotator: match by term: Donnai-Barrow syndrome | ClinVar Annotator: match by term: LRP2-related condition OMIM:222448 CTD Direct Evidence: marker/mechanism
OMIM ClinVar MouseDO CTD
PMID:8266995 PMID:9475100 PMID:9536098 PMID:12923867 PMID:16199547 PMID:17576681 PMID:17632512 PMID:18414213 PMID:20301732 PMID:20359920 PMID:23033978 PMID:23048173 PMID:23992033 PMID:24319098 PMID:24406863 PMID:24876117 PMID:25158045 PMID:25326635 PMID:25682901 PMID:25741868 PMID:26118977 PMID:26284228 PMID:26350204 PMID:26529358 PMID:28492532 PMID:28539120 PMID:29992659 PMID:30167849 PMID:32238909 PMID:33103447 PMID:33461977 PMID:34979047 PMID:36474027 PMID:38177409 More...
NCBI chr 3:54,189,305...54,346,769
Ensembl chr 3:54,189,308...54,346,708
G
Actr1b
actin related protein 1B
ISO
ClinVar Annotator: match by term: Duane retraction syndrome
ClinVar
PMID:25741868
NCBI chr 9:38,928,819...38,938,483
Ensembl chr 9:38,929,912...38,938,507
G
Chn1
chimerin 1
ISO ISS
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Duane retraction syndrome OMIM:126800 | OMIM:604356
CTD ClinVar MouseDO
PMID:25741868
NCBI chr 3:58,509,822...58,676,462
Ensembl chr 3:58,510,536...58,676,490
G
Col7a1
collagen type VII alpha 1 chain
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...
NCBI chr 8:109,604,877...109,637,249
Ensembl chr 8:109,604,861...109,637,252
G
Cux1
cut-like homeobox 1
ISO
ClinVar Annotator: match by term: Duane retraction syndrome
ClinVar
PMID:25741868
NCBI chr12:20,107,062...20,425,868
Ensembl chr12:20,107,311...20,425,866 Ensembl chr 4:20,107,311...20,425,866
G
Fer
FER tyrosine kinase
ISO
ClinVar Annotator: match by term: Duane retraction syndrome
ClinVar
PMID:25741868
NCBI chr 9:103,520,452...103,827,364
Ensembl chr 9:103,520,493...103,821,451
G
Foxl2
forkhead box L2
ISO
ClinVar Annotator: match by term: Duane retraction syndrome
ClinVar
PMID:25741868 PMID:39033378
NCBI chr 8:99,512,971...99,514,500
Ensembl chr 8:99,513,303...99,514,427
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Gnas
GNAS complex locus
ISO
ClinVar Annotator: match by term: Duane anomaly | ClinVar Annotator: match by term: Duane retraction syndrome
ClinVar
PMID:25741868
NCBI chr 3:163,071,003...163,136,350
Ensembl chr 3:163,071,417...163,127,262 Ensembl chr 3:163,071,417...163,127,262
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Kif5c
kinesin family member 5C
ISO
ClinVar Annotator: match by term: Duane retraction syndrome
ClinVar
PMID:25741868
NCBI chr 3:34,032,082...34,185,597
Ensembl chr 3:34,032,105...34,182,413
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Mafb
MAF bZIP transcription factor B
ISO ISS
CTD Direct Evidence: marker/mechanism OMIM:126800 | OMIM:604356
CTD MouseDO
NCBI chr 3:148,998,111...149,000,031
Ensembl chr 3:148,998,122...149,000,031
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Ptpn11
protein tyrosine phosphatase, non-receptor type 11
ISO
ClinVar Annotator: match by term: Duane retraction syndrome
ClinVar
PMID:25741868 PMID:39033378
NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925
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Sall4
spalt-like transcription factor 4
ISO
DNA:snps, deletions, insertion:multiple (human) CTD Direct Evidence: marker/mechanism DNA:duplication:cds:c.410dupG (human) 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)
CTD RGD
PMID:16402211 PMID:30067223 PMID:12393809 PMID:26791099 PMID:12395297 PMID:16411190 PMID:17216607 PMID:23687435 More...
RGD:11556210 , RGD:11532205 , RGD:11556232 , RGD:11556231 , RGD:11556215 , RGD:11556211
NCBI chr 3:157,474,067...157,491,055
Ensembl chr 3:157,474,642...157,490,822
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Tuba8
tubulin, alpha 8
ISO
ClinVar Annotator: match by term: Duane retraction syndrome
ClinVar
PMID:25741868 PMID:39033378
NCBI chr 4:154,440,045...154,456,918
Ensembl chr 4:154,440,074...154,456,917
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Mafb
MAF bZIP transcription factor B
ISO
ClinVar Annotator: match by term: Duane syndrome type 1
ClinVar
PMID:27181683
NCBI chr 3:148,998,111...149,000,031
Ensembl chr 3:148,998,122...149,000,031
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Chn1
chimerin 1
ISO
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...
NCBI chr 3:58,509,822...58,676,462
Ensembl chr 3:58,510,536...58,676,490
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Mafb
MAF bZIP transcription factor B
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
NCBI chr 3:148,998,111...149,000,031
Ensembl chr 3:148,998,122...149,000,031
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Tfap2a
transcription factor AP-2 alpha
ISO
ClinVar Annotator: match by term: Esotropia
ClinVar
PMID:25741868
NCBI chr17:24,028,716...24,047,507
Ensembl chr17:24,024,432...24,047,507
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Auts2
activator of transcription and developmental regulator AUTS2
ISO
ClinVar Annotator: match by term: concomitant exotropia
ClinVar
PMID:25741868 PMID:28492532
NCBI chr12:24,104,187...25,194,123
Ensembl chr12:24,104,192...25,194,416
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Cdh3
cadherin 3
ISO
ClinVar Annotator: match by term: concomitant exotropia
ClinVar
PMID:28492532
NCBI chr19:34,393,596...34,444,084
Ensembl chr19:34,393,727...34,444,084
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Col4a2
collagen type IV alpha 2 chain
ISO
ClinVar Annotator: match by term: concomitant exotropia
ClinVar
PMID:28492532
NCBI chr16:78,047,591...78,183,360
Ensembl chr16:78,047,602...78,183,839
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Herc2
HECT and RLD domain containing E3 ubiquitin protein ligase 2
ISO
ClinVar Annotator: match by term: concomitant exotropia
ClinVar
NCBI chr 1:106,904,789...107,110,997
Ensembl chr 1:106,880,084...107,108,134
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Loxhd1
lipoxygenase homology PLAT domains 1
ISO
ClinVar Annotator: match by term: concomitant exotropia
ClinVar
PMID:24033266 PMID:26467025 PMID:28492532 PMID:29799290 PMID:30311386
NCBI chr18:70,817,962...70,970,606
Ensembl chr18:70,818,276...70,969,983
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Pomgnt2
protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)
ISO
ClinVar Annotator: match by term: concomitant exotropia
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 8:121,645,106...121,660,761
Ensembl chr 8:121,644,970...121,660,757
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Tomm7
translocase of outer mitochondrial membrane 7
ISO
ClinVar Annotator: match by term: Garg-Mishra progeroid syndrome
ClinVar OMIM
PMID:36282599 PMID:36299998
NCBI chr 4:11,305,122...11,311,963
Ensembl chr 4:11,305,110...11,311,962
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Irx5
iroquois homeobox 5
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hamamy syndrome
OMIM CTD ClinVar
PMID:17230486 PMID:22581230 PMID:25741868 PMID:28492532 PMID:34899143
NCBI chr19:14,639,052...14,643,911
Ensembl chr19:14,624,225...14,642,318
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Mfrp
membrane frizzled-related protein
ISO
DNA:missense, deletion, duplication mutations:cds:
RGD
PMID:26583794
RGD:11076374
NCBI chr 8:44,445,636...44,450,859
Ensembl chr 8:44,445,697...44,450,859
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Abca1
ATP binding cassette subfamily A member 1
ISO
ClinVar Annotator: match by term: High myopia
ClinVar
NCBI chr 5:67,678,267...67,801,162
Ensembl chr 5:67,681,297...67,801,170
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Ablim2
actin binding LIM protein family, member 2
ISO
ClinVar Annotator: match by term: High myopia
ClinVar
NCBI chr14:74,865,409...74,990,334
Ensembl chr14:74,866,281...74,990,334
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Aebp1
AE binding protein 1
ISO
ClinVar Annotator: match by term: High myopia
ClinVar
NCBI chr14:80,738,800...80,748,878
Ensembl chr14:80,738,892...80,748,877
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Aldh1l1
aldehyde dehydrogenase 1 family, member L1
ISO
ClinVar Annotator: match by term: High myopia
ClinVar
NCBI chr 4:123,059,989...123,106,471
Ensembl chr 4:123,060,008...123,106,465
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Anapc1
anaphase promoting complex subunit 1
ISO
ClinVar Annotator: match by term: High myopia
ClinVar
NCBI chr 3:115,850,117...115,930,259
Ensembl chr 3:115,850,185...115,930,273
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Ankmy2
ankyrin repeat and MYND domain containing 2
ISO
ClinVar Annotator: match by term: High myopia
ClinVar
NCBI chr 6:52,888,959...52,930,343
Ensembl chr 6:52,888,963...52,930,394
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Ap5z1
adaptor related protein complex 5 subunit zeta 1
ISO
ClinVar Annotator: match by term: High myopia
ClinVar
PMID:25741868 PMID:28492532
NCBI chr12:12,093,834...12,109,043
Ensembl chr12:12,093,834...12,108,511
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Atat1
alpha tubulin acetyltransferase 1
ISO
ClinVar Annotator: match by term: High myopia
ClinVar
NCBI chr20:2,844,595...2,857,809
Ensembl chr20:2,844,616...2,861,964
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Bcan
brevican
ISO
ClinVar Annotator: match by term: High myopia
ClinVar
NCBI chr 2:173,454,479...173,467,717
Ensembl chr 2:173,454,482...173,467,460
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Cd109
CD109 molecule
ISO
ClinVar Annotator: match by term: High myopia
ClinVar
NCBI chr 8:79,454,480...79,569,195
Ensembl chr 8:79,454,480...79,569,194
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Ciao3
cytosolic iron-sulfur assembly component 3
ISO
ClinVar Annotator: match by term: High myopia
ClinVar
NCBI chr10:14,795,888...14,804,953
Ensembl chr10:14,795,961...14,804,950
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Col17a1
collagen type XVII alpha 1 chain
ISO
ClinVar Annotator: match by term: High myopia
ClinVar
PMID:24814191 PMID:25803036
NCBI chr 1:246,530,589...246,577,559
Ensembl chr 1:246,531,367...246,577,632
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Col1a1
collagen type I alpha 1 chain
susceptibility no_association
ISO
DNA:snps:5' utr, intron:g.-2116T>G, g.-1482G>C, IVS11+80T>G (rs1107946, rs2269336, rs2075555) (human) DNA:snps:5' utr, intron:g.-1482G>C, IVS11+80T>G (rs2269336, rs2075555) (human)
RGD
PMID:17557158 PMID:18836165
RGD:8552654 , RGD:8552655
NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624
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Col2a1
collagen type II alpha 1 chain
severity
ISO
DNA:snps:multiple (human)
RGD
PMID:19387081
RGD:8657342
NCBI chr 7:129,098,489...129,127,560
Ensembl chr 7:129,098,786...129,127,546
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Cpt1b
carnitine palmitoyltransferase 1B
ISO
ClinVar Annotator: match by term: High myopia
ClinVar
NCBI chr 7:120,491,354...120,500,833
Ensembl chr 7:120,491,354...120,500,404
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Crygd
crystallin, gamma D
ISO
ClinVar Annotator: match by term: High myopia
ClinVar
PMID:28492532
NCBI chr 9:66,442,057...66,443,668
Ensembl chr 9:66,442,054...66,444,067
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Dut
deoxyuridine triphosphatase
ISO
ClinVar Annotator: match by term: High myopia
ClinVar
NCBI chr 3:112,498,864...112,509,994
Ensembl chr 3:112,498,982...112,510,771
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Egflam
EGF-like, fibronectin type III and laminin G domains
ISO
ClinVar Annotator: match by term: High myopia
ClinVar
NCBI chr 2:56,301,945...56,476,665
Ensembl chr 2:56,302,566...56,476,298
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Elavl4
ELAV like RNA binding protein 4
ISO
ClinVar Annotator: match by term: High myopia
ClinVar
NCBI chr 5:125,056,848...125,200,543
Ensembl chr 5:125,056,848...125,200,446
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Epha8
Eph receptor A8
ISO
ClinVar Annotator: match by term: High myopia
ClinVar
NCBI chr 5:149,166,107...149,193,515
Ensembl chr 5:149,166,697...149,193,399
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Fbn1
fibrillin 1
ISO
ClinVar Annotator: match by term: High myopia
ClinVar
PMID:7611299 PMID:8894692 PMID:9401003 PMID:9536098 PMID:10464652 PMID:10533071 PMID:10874320 PMID:11700157 PMID:11933199 PMID:12203987 PMID:12203992 PMID:12402346 PMID:12938084 PMID:14695540 PMID:15241795 PMID:16220557 PMID:16222657 PMID:16835936 PMID:17253931 PMID:17576681 PMID:17627385 PMID:17657824 PMID:17663468 PMID:19159394 PMID:19293843 PMID:20301510 PMID:21542060 PMID:21907952 PMID:24033266 PMID:24161884 PMID:24833718 PMID:25741868 PMID:25907466 PMID:26133393 PMID:26333736 PMID:27146836 PMID:27274304 PMID:27611364 PMID:27724990 PMID:28492532 PMID:28855619 PMID:29357934 PMID:29875124 PMID:30675029 PMID:30739908 PMID:31098894 PMID:31211626 PMID:31751304 PMID:31950671 PMID:32679894 PMID:34498425 PMID:37684520 More...
NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889
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Fbn2
fibrillin 2
ISO
ClinVar Annotator: match by term: High myopia
ClinVar
NCBI chr18:51,499,670...51,703,976
Ensembl chr18:51,499,737...51,703,976
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Fhip1a
FHF complex subunit HOOK interacting protein 1A
ISO
ClinVar Annotator: match by term: High myopia
ClinVar
NCBI chr 2:171,016,951...171,265,715
Ensembl chr 2:171,021,246...171,265,848
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Flii
FLII, actin remodeling protein
ISO
ClinVar Annotator: match by term: High myopia
ClinVar
NCBI chr10:45,394,032...45,408,051
Ensembl chr10:45,394,032...45,407,970
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Flrt3
fibronectin leucine rich transmembrane protein 3
ISO
ClinVar Annotator: match by term: High myopia
ClinVar
NCBI chr 3:127,994,491...128,008,137
Ensembl chr 3:127,994,226...128,007,841
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Fuca2
alpha-L-fucosidase 2
ISO
ClinVar Annotator: match by term: High myopia
ClinVar
NCBI chr 1:7,885,986...7,900,777
Ensembl chr 1:7,885,918...7,900,776
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Gna14
G protein subunit alpha 14
ISO
ClinVar Annotator: match by term: High myopia
ClinVar
NCBI chr 1:213,714,993...213,900,083
Ensembl chr 1:213,716,020...213,897,423
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Grb7
growth factor receptor bound protein 7
ISO
ClinVar Annotator: match by term: High myopia
ClinVar
NCBI chr10:83,443,387...83,453,057
Ensembl chr10:83,444,004...83,453,052
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Hmx2
H6 family homeobox 2
ISO
ClinVar Annotator: match by term: High myopia
ClinVar
NCBI chr 1:186,319,110...186,326,771
Ensembl chr 1:186,319,110...186,326,771
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Hsd17b14
hydroxysteroid (17-beta) dehydrogenase 14
ISO
ClinVar Annotator: match by term: High myopia
ClinVar
NCBI chr 1:96,029,224...96,039,577
Ensembl chr 1:96,029,284...96,039,883
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Ifit1
interferon-induced protein with tetratricopeptide repeats 1
ISO
ClinVar Annotator: match by term: High myopia
ClinVar
NCBI chr 1:232,152,038...232,154,103
Ensembl chr 1:232,127,170...232,154,435
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Il1rap
interleukin 1 receptor accessory protein
ISO
ClinVar Annotator: match by term: High myopia
ClinVar
PMID:25741868
NCBI chr11:74,062,999...74,199,530
Ensembl chr11:74,070,304...74,199,530
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Il36b
interleukin 36, beta
ISO
ClinVar Annotator: match by term: High myopia
ClinVar
NCBI chr 3:7,024,881...7,030,388
Ensembl chr 3:7,021,973...7,031,619
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Ina
internexin neuronal intermediate filament protein, alpha
ISO
ClinVar Annotator: match by term: High myopia
ClinVar
NCBI chr 1:245,896,775...245,908,330
Ensembl chr 1:245,896,775...245,908,330
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Kdr
kinase insert domain receptor
ISO
ClinVar Annotator: match by term: Severe Myopia
ClinVar
PMID:26422291 PMID:28492532
NCBI chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018
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Lama5
laminin subunit alpha 5
ISO
ClinVar Annotator: match by term: High myopia
ClinVar
PMID:28492532
NCBI chr 3:167,270,296...167,318,370
Ensembl chr 3:167,270,296...167,318,451
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Lgmn
legumain
ISO
ClinVar Annotator: match by term: High myopia
ClinVar
NCBI chr 6:121,544,048...121,582,495
Ensembl chr 6:121,544,053...121,582,480
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Limk1
LIM domain kinase 1
ISO
ClinVar Annotator: match by term: High myopia
ClinVar
NCBI chr12:22,026,697...22,060,605
Ensembl chr12:22,026,672...22,060,606
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LOC100910814
keratin-associated protein 9-1-like
ISO
ClinVar Annotator: match by term: High myopia
ClinVar
NCBI chr10:84,819,652...84,820,206
Ensembl chr10:84,819,601...84,820,209
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Lrp1b
LDL receptor related protein 1B
ISO
ClinVar Annotator: match by term: High myopia
ClinVar
NCBI chr 3:24,594,302...26,715,037
Ensembl chr 3:24,594,991...26,715,505
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Lrp2
LDL receptor related protein 2
ISO
ClinVar Annotator: match by term: High myopia
ClinVar
PMID:17632512 PMID:25682901 PMID:25741868 PMID:28492532
NCBI chr 3:54,189,305...54,346,769
Ensembl chr 3:54,189,308...54,346,708
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Macrod2
mono-ADP ribosylhydrolase 2
ISO
ClinVar Annotator: match by term: High myopia
ClinVar
NCBI chr 3:127,720,066...129,737,511
Ensembl chr 3:127,720,181...129,734,492
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Mcl1
MCL1 apoptosis regulator, BCL2 family member
ISO
ClinVar Annotator: match by term: High myopia
ClinVar
NCBI chr 2:183,219,137...183,235,676
Ensembl chr 2:183,219,220...183,222,303
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Neil2
nei-like DNA glycosylase 2
ISO
ClinVar Annotator: match by term: High myopia
ClinVar
NCBI chr15:37,444,676...37,454,863
Ensembl chr15:37,445,381...37,454,863
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Nfkb1
nuclear factor kappa B subunit 1
ISO
ClinVar Annotator: match by term: High myopia
ClinVar
PMID:28492532
NCBI chr 2:224,016,214...224,132,135
Ensembl chr 2:224,016,214...224,110,404
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Nrcam
neuronal cell adhesion molecule
ISO
ClinVar Annotator: match by term: High myopia
ClinVar
NCBI chr 6:61,402,813...61,698,536
Ensembl chr 6:61,329,863...61,702,992
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Pax6
paired box 6
susceptibility
ISO
DNA:snp, haplotype:3' utr:c.*2160G>A (rs12421026) (human) DNA:snp:intron:IVS11+393C>A (rs644242) (human) DNA:snps:intron:IVS13+43T>G, IVS13-1101A>G (rs3026393, rs3026390) (human)
RGD
PMID:21589860 PMID:23213273 PMID:19124844
RGD:8552263 , RGD:8552307 , RGD:8552290
NCBI chr 3:92,128,772...92,157,022
Ensembl chr 3:92,135,637...92,157,014
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Paxbp1
PAX3 and PAX7 binding protein 1
ISO
ClinVar Annotator: match by term: High myopia
ClinVar
NCBI chr11:30,272,037...30,301,504
Ensembl chr11:30,272,037...30,301,648
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Pcsk9
proprotein convertase subtilisin/kexin type 9
ISO
ClinVar Annotator: match by term: High myopia
ClinVar
PMID:25741868
NCBI chr 5:121,211,278...121,233,688
Ensembl chr 5:121,211,278...121,233,688
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Pde6b
phosphodiesterase 6B
ISO
ClinVar Annotator: match by term: High myopia
ClinVar
PMID:28492532
NCBI chr14:1,323,310...1,366,450
Ensembl chr14:1,323,310...1,366,450
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Pgap1
post-GPI attachment to proteins inositol deacylase 1
ISO
ClinVar Annotator: match by term: High myopia
ClinVar
NCBI chr 9:55,975,574...56,044,325
Ensembl chr 9:55,975,667...56,044,464
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Pgs1
phosphatidylglycerophosphate synthase 1
ISO
ClinVar Annotator: match by term: High myopia
ClinVar
NCBI chr10:103,214,635...103,250,254
Ensembl chr10:103,214,646...103,250,254
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Pigt
phosphatidylinositol glycan anchor biosynthesis, class T
ISO
ClinVar Annotator: match by term: High myopia
ClinVar
PMID:28492532
NCBI chr 3:153,227,749...153,236,922
Ensembl chr 3:153,227,420...153,236,887
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Prkaa2
protein kinase AMP-activated catalytic subunit alpha 2
ISO
ClinVar Annotator: match by term: High myopia
ClinVar
NCBI chr 5:119,807,992...119,879,987
Ensembl chr 5:119,813,226...119,879,543
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Prpf38b
pre-mRNA processing factor 38B
ISO
ClinVar Annotator: match by term: High myopia
ClinVar
NCBI chr 2:196,553,224...196,562,271
Ensembl chr 2:196,553,225...196,562,250
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Psat1
phosphoserine aminotransferase 1
ISO
ClinVar Annotator: match by term: High myopia
ClinVar
PMID:28492532 PMID:32077105
NCBI chr 1:213,196,709...213,218,564
Ensembl chr 1:213,196,709...213,218,682
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Ptprz1
protein tyrosine phosphatase, receptor type Z1
ISO
ClinVar Annotator: match by term: High myopia
ClinVar
NCBI chr 4:51,397,316...51,595,220
Ensembl chr 4:51,397,601...51,595,218
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Pygm
glycogen phosphorylase, muscle associated
ISO
ClinVar Annotator: match by term: Severe Myopia
ClinVar
PMID:25741868 PMID:28492532 PMID:29881221
NCBI chr 1:203,690,550...203,705,369
Ensembl chr 1:203,690,533...203,705,368
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Rabepk
Rab9 effector protein with kelch motifs
ISO
ClinVar Annotator: match by term: High myopia
ClinVar
NCBI chr 3:18,061,299...18,083,191
Ensembl chr 3:18,061,574...18,083,191
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Ralgapb
Ral GTPase activating protein non-catalytic subunit beta
ISO
ClinVar Annotator: match by term: High myopia
ClinVar
NCBI chr 3:147,062,443...147,152,090
Ensembl chr 3:147,062,364...147,152,090
G
Rasgrf1
RAS protein-specific guanine nucleotide-releasing factor 1
ISO
DNA:snp:intron:IVS1+7218 (human)
RGD
PMID:24150758
RGD:10003136
NCBI chr 8:90,445,154...90,574,274
Ensembl chr 8:90,445,154...90,574,269
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Rpl4
ribosomal protein L4
ISO
ClinVar Annotator: match by term: High myopia
ClinVar
NCBI chr 8:64,671,177...64,676,301
Ensembl chr 8:64,671,160...64,676,306
G
Sema3c
semaphorin 3C
ISO
ClinVar Annotator: match by term: High myopia
ClinVar
NCBI chr 4:17,583,212...17,747,234
Ensembl chr 4:17,583,212...17,746,534
G
Sipa1l2
signal-induced proliferation-associated 1 like 2
ISO
ClinVar Annotator: match by term: High myopia
ClinVar
NCBI chr19:53,389,792...53,540,466
Ensembl chr19:53,389,805...53,540,428
G
Slc22a5
solute carrier family 22 member 5
ISO
ClinVar Annotator: match by term: Severe Myopia
ClinVar
PMID:18673259 PMID:25741868 PMID:26633542 PMID:26828774 PMID:28074886 PMID:28492532 PMID:28841266 PMID:36343260 More...
NCBI chr10:38,008,303...38,035,474
Ensembl chr10:38,008,311...38,035,309
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Slc25a25
solute carrier family 25 member 25
ISO
ClinVar Annotator: match by term: High myopia
ClinVar
NCBI chr 3:15,708,702...15,742,195
Ensembl chr 3:15,708,703...15,742,216
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Slc28a1
solute carrier family 28 member 1
ISO
ClinVar Annotator: match by term: High myopia
ClinVar
NCBI chr 1:135,079,375...135,122,791
Ensembl chr 1:135,081,385...135,122,464
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Slc35e2b
solute carrier family 35, member E2B
ISO
ClinVar Annotator: match by term: High myopia
ClinVar
NCBI chr 5:166,185,166...166,211,055
Ensembl chr 5:166,185,166...166,207,021
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Slc6a19
solute carrier family 6 member 19
ISO
ClinVar Annotator: match by term: High myopia
ClinVar
PMID:9536098 PMID:15286788 PMID:17576681 PMID:25741868 PMID:28492532
NCBI chr 1:29,586,191...29,604,964
Ensembl chr 1:29,586,195...29,604,962
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Sntg2
syntrophin, gamma 2
ISO
ClinVar Annotator: match by term: High myopia
ClinVar
NCBI chr 6:46,801,893...47,003,390
Ensembl chr 6:46,801,377...47,003,372
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St14
ST14 transmembrane serine protease matriptase
ISO
ClinVar Annotator: match by term: High myopia
ClinVar
NCBI chr 8:29,540,805...29,581,704
Ensembl chr 8:29,540,811...29,581,517
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Stac2
SH3 and cysteine rich domain 2
ISO
ClinVar Annotator: match by term: High myopia
ClinVar
NCBI chr10:83,032,418...83,048,260
Ensembl chr10:83,032,417...83,048,260
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Wdr36
WD repeat domain 36
ISO
ClinVar Annotator: match by term: High myopia
ClinVar
PMID:25741868 PMID:28492532
NCBI chr18:24,473,657...24,501,773
Ensembl chr18:24,473,663...24,508,092
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Zc3h13
zinc finger CCCH type containing 13
ISO
ClinVar Annotator: match by term: High myopia
ClinVar
NCBI chr15:50,607,335...50,671,802
Ensembl chr15:50,607,380...50,671,802
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Zfp446
zinc finger protein 446
ISO
ClinVar Annotator: match by term: High myopia
ClinVar
NCBI chr 1:73,594,953...73,612,685
Ensembl chr 1:73,601,759...73,612,685
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Zfp536
zinc finger protein 536
ISO
ClinVar Annotator: match by term: High myopia
ClinVar
NCBI chr 1:90,000,359...90,463,423
Ensembl chr 1:90,002,858...90,462,990
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Zfp692
zinc finger protein 692
ISO
ClinVar Annotator: match by term: High myopia
ClinVar
NCBI chr10:42,484,576...42,496,573
Ensembl chr10:42,488,588...42,496,018
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P3h2
prolyl 3-hydroxylase 2
ISO
ClinVar Annotator: match by term: Myopia, high, with cataract and vitreoretinal degeneration | ClinVar Annotator: match by term: P3H2-related condition
OMIM ClinVar
PMID:21885030 PMID:24172257 PMID:25469533 PMID:25741868 PMID:28492532 PMID:31456290 More...
NCBI chr11:74,634,267...74,775,422
Ensembl chr11:74,634,267...74,775,421
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Slitrk6
SLIT and NTRK-like family, member 6
ISO ISS
OMIM:221200 ClinVar Annotator: match by term: Deafness and myopia | ClinVar Annotator: match by term: High myopia-sensorineural deafness syndrome
OMIM MouseDO ClinVar
PMID:23543054 PMID:23946138 PMID:24033266 PMID:25363768 PMID:25741868 PMID:28407358 PMID:28492532 PMID:30311386 More...
NCBI chr15:87,563,506...87,570,125
Ensembl chr15:87,563,322...87,570,393
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Kcna6
potassium voltage-gated channel subfamily A member 6
ISO
ClinVar Annotator: match by term: Hyperopia
ClinVar
PMID:25741868
NCBI chr 4:159,542,941...159,576,189
Ensembl chr 4:159,542,615...159,576,189
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Myrf
myelin regulatory factor
ISO
DNA:mutations:multiple:
RGD
PMID:36129575
RGD:199225554
NCBI chr 1:206,854,175...206,886,276
Ensembl chr 1:206,854,175...206,886,157
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Nog
noggin
ISO
associated with Multiple Synostoses Syndrome 1; DNA:mutation:cds:1426G>C (P.W205C)(Human)
RGD
PMID:16151340
RGD:12801467
NCBI chr10:74,128,712...74,130,339
Ensembl chr10:74,128,712...74,130,339
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Topors
TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase
ISO
ClinVar Annotator: match by term: Hypermetropia
ClinVar
PMID:25741868 PMID:26720483 PMID:28492532
NCBI chr 5:55,388,033...55,399,937
Ensembl chr 5:55,387,632...55,399,937
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Sobp
sine oculis binding protein homolog
ISO
ClinVar Annotator: match by term: IMPAIRED INTELLECTUAL DEVELOPMENT, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS | ClinVar Annotator: match by term: Intellectual disability, anterior maxillary protrusion, and strabismus
OMIM ClinVar
PMID:17618476 PMID:18414213 PMID:21035105 PMID:25741868 PMID:28492532
NCBI chr20:46,482,265...46,661,452
Ensembl chr20:46,482,765...46,663,541
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Gzf1
GDNF-inducible zinc finger protein 1
ISO
ClinVar Annotator: match by term: GZF1-related condition | ClinVar Annotator: match by term: Joint laxity, short stature, and myopia
OMIM ClinVar
PMID:25741868 PMID:28475863 PMID:28492532 PMID:35802133 PMID:36633841
NCBI chr 3:136,119,004...136,131,223
Ensembl chr 3:136,119,113...136,131,223
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Col2a1
collagen type II alpha 1 chain
ISO
ClinVar Annotator: match by term: MASS syndrome
ClinVar
PMID:25741868 PMID:28492532 PMID:35296718
NCBI chr 7:129,098,489...129,127,560
Ensembl chr 7:129,098,786...129,127,546
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Fbn1
fibrillin 1
ISO
ClinVar Annotator: match by term: MASS syndrome | ClinVar Annotator: match by term: Overlap connective tissue disease CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:627879 PMID:948948 PMID:1569206 PMID:2005308 PMID:2254511 PMID:2739055 PMID:3212331 PMID:3495735 PMID:4750422 PMID:7802039 PMID:7870075 PMID:8004112 PMID:8040326 PMID:8541880 PMID:8653794 PMID:8723076 PMID:8791520 PMID:9338581 PMID:9399842 PMID:9401003 PMID:9452085 PMID:9536098 PMID:9837823 PMID:10464652 PMID:10486319 PMID:10533071 PMID:10612827 PMID:10633129 PMID:11068200 PMID:11139245 PMID:11143906 PMID:11175294 PMID:11315929 PMID:11524736 PMID:11700157 PMID:11702223 PMID:11748851 PMID:11826022 PMID:11933199 PMID:11992479 PMID:12068374 PMID:12161601 PMID:12203987 PMID:12203992 PMID:12402346 PMID:12446365 PMID:12938084 PMID:14695540 PMID:15054843 PMID:15062093 PMID:15161917 PMID:15241795 PMID:15880509 PMID:15980072 PMID:15983637 PMID:16199547 PMID:16220557 PMID:16222657 PMID:16342915 PMID:16571647 PMID:16677079 PMID:16756980 PMID:16765689 PMID:16835936 PMID:16905551 PMID:16971892 PMID:17242066 PMID:17253931 PMID:17418587 PMID:17503327 PMID:17576681 PMID:17627385 PMID:17657824 PMID:17663468 PMID:17679947 PMID:17701892 PMID:17718856 PMID:18079676 PMID:18087243 PMID:18435798 PMID:18615205 PMID:19012347 PMID:19059503 PMID:19089573 PMID:19159394 PMID:19161152 PMID:19293843 PMID:19328768 PMID:19349279 PMID:19353630 PMID:19370756 PMID:19533785 PMID:19618372 PMID:19780835 PMID:19802897 PMID:19839986 PMID:19863550 PMID:19941982 PMID:20301510 PMID:20375004 PMID:20564469 PMID:20699357 PMID:20886638 PMID:21542060 PMID:21784848 PMID:21883168 PMID:21895641 PMID:21907952 PMID:21932315 PMID:22772377 PMID:22950452 PMID:23278365 PMID:23506379 PMID:23577066 PMID:23608731 PMID:23684891 PMID:23719250 PMID:23794388 PMID:24033266 PMID:24161884 PMID:24199744 PMID:24793577 PMID:24833718 PMID:24941995 PMID:25053872 PMID:25101912 PMID:25326635 PMID:25363768 PMID:25504618 PMID:25637381 PMID:25644172 PMID:25652356 PMID:25741868 PMID:25812041 PMID:25852444 PMID:25900864 PMID:25907466 PMID:25944730 PMID:26133393 PMID:26188975 PMID:26214305 PMID:26269718 PMID:26272055 PMID:26272908 PMID:26333736 PMID:26498160 PMID:26559152 PMID:26621581 PMID:26787436 PMID:26875674 PMID:27058611 PMID:27106435 PMID:27112580 PMID:27146836 PMID:27153395 PMID:27234404 PMID:27274304 PMID:27353645 PMID:27437668 PMID:27582083 PMID:27611364 PMID:27647783 PMID:27724990 PMID:27906200 PMID:27930701 PMID:27959697 PMID:28050602 PMID:28087566 PMID:28098115 PMID:28301460 PMID:28468757 PMID:28492532 PMID:28539832 PMID:28550590 PMID:28636274 PMID:28642162 PMID:28650953 PMID:28655553 PMID:28659821 PMID:28847661 PMID:28855619 PMID:28901506 PMID:28941062 PMID:28973303 PMID:29357934 PMID:29510914 PMID:29543232 PMID:29768367 PMID:29845260 PMID:29848614 PMID:29875124 PMID:29907982 PMID:30048161 PMID:30056620 PMID:30057829 PMID:30086531 PMID:30341550 PMID:30471092 PMID:30513137 PMID:30542390 PMID:30653986 PMID:30675029 PMID:30739908 PMID:30796334 PMID:30838813 PMID:31008308 PMID:31020005 PMID:31098894 PMID:31163209 PMID:31167969 PMID:31211624 PMID:31211626 PMID:31227806 PMID:31605817 PMID:31727422 PMID:31730815 PMID:31751304 PMID:31774634 PMID:31825148 PMID:31903434 PMID:31950671 PMID:32009526 PMID:32123317 PMID:32679894 PMID:32730690 PMID:32939518 PMID:33100332 PMID:33243733 PMID:33282382 PMID:33436942 PMID:33483584 PMID:33824467 PMID:34008892 PMID:34135346 PMID:34281902 PMID:34422331 PMID:34456093 PMID:34498425 PMID:34653508 PMID:34818515 PMID:35234813 PMID:35877578 PMID:36973604 PMID:37042257 PMID:37460677 PMID:37684520 More...
NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889
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Col2a1
collagen type II alpha 1 chain
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Epiphyseal dysplasia, multiple, with myopia and conductive deafness | ClinVar Annotator: match by term: Multiple epiphyseal dysplasia, Beighton type
OMIM CTD ClinVar
PMID:7695699 PMID:7977371 PMID:8218237 PMID:8702139 PMID:8893763 PMID:9016532 PMID:9800905 PMID:17078022 PMID:17347327 PMID:18272325 PMID:18276201 PMID:19344236 PMID:22496037 PMID:25504618 PMID:25592122 PMID:25604898 PMID:25741868 PMID:25741869 PMID:26037341 PMID:26467025 PMID:27390512 PMID:28018693 PMID:28492532 PMID:28983407 More...
NCBI chr 7:129,098,489...129,127,560
Ensembl chr 7:129,098,786...129,127,546
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Adora2a
adenosine A2a receptor
ISS
OMIM:160700 | OMIM:255500 | OMIM:300613 | OMIM:310460 | OMIM:603221 | OMIM:608367 | OMIM:608474 | OMIM:608908 | OMIM:609256 | OMIM:609257 | OMIM:609258 | OMIM:609259 | OMIM:609994 | OMIM:609995 | OMIM:610320 | OMIM:612554 | OMIM:612717 | OMIM:613959 | OMIM:613969 | OMIM:614166 | OMIM:614167 | OMIM:615420 | OMIM:615431 | OMIM:615946
MouseDO
NCBI chr20:13,315,848...13,333,386
Ensembl chr20:13,315,853...13,333,386
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Bmp2
bone morphogenetic protein 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23396134
NCBI chr 3:120,812,660...120,822,579
Ensembl chr 3:120,812,882...120,821,397
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Cacna1f
calcium voltage-gated channel subunit alpha1 F
ISO
ClinVar Annotator: match by term: Myopia
ClinVar
PMID:25741868
NCBI chr X:14,868,096...14,896,413
Ensembl chr X:14,868,024...14,896,413
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Chd7
chromodomain helicase DNA binding protein 7
ISO
ClinVar Annotator: match by term: Myopia
ClinVar
PMID:25741868
NCBI chr 5:21,812,007...21,995,358
Ensembl chr 5:21,812,070...21,995,358
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Col1a1
collagen type I alpha 1 chain
ISO
mRNA:decreased expression:sclera (mouse)
RGD
PMID:22690110
RGD:8552656
NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624
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Col2a1
collagen type II alpha 1 chain
susceptibility
ISO
DNA:snp:intron:g.IVS1-1194A>C (rs1635529) (human) ClinVar Annotator: match by term: Myopia associated with Stickler Syndrome, Type 1; DNA:mutations: exons: CTD Direct Evidence: marker/mechanism
ClinVar CTD RGD
PMID:9800905 PMID:17653045 PMID:22496037 PMID:25741868 PMID:27390512 PMID:28018693 PMID:28492532 PMID:28983407 PMID:17653045 PMID:18276201 More...
RGD:8657390 , RGD:12436723
NCBI chr 7:129,098,489...129,127,560
Ensembl chr 7:129,098,786...129,127,546
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Col9a1
collagen type IX alpha 1 chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16909383
NCBI chr 9:26,585,034...26,668,222
Ensembl chr 9:26,585,034...26,668,213
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Fbn1
fibrillin 1
ISO
ClinVar Annotator: match by term: Myopia
ClinVar
PMID:25741868
NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889
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Flna
filamin A
ISO
ClinVar Annotator: match by term: Myopia
ClinVar
PMID:28492532
NCBI chr X:152,007,758...152,034,266
Ensembl chr X:152,007,758...152,031,052
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Gjd2
gap junction protein, delta 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23396134
NCBI chr 3:100,771,450...100,776,134
Ensembl chr 3:100,772,062...100,775,061
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Gria4
glutamate ionotropic receptor AMPA type subunit 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23396134
NCBI chr 8:1,562,118...2,035,035
Ensembl chr 8:1,562,119...2,034,979
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Hgf
hepatocyte growth factor
no_association susceptibility
ISO
DNA:SNP: : rs3735520(human) DNA:SNPs,haplotypes:multiple:
RGD
PMID:16723436 PMID:19060265 PMID:19471602
RGD:1642706 , RGD:8548600 , RGD:8548542
NCBI chr 4:18,673,736...18,745,582
Ensembl chr 4:18,677,101...18,745,409
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Igf1
insulin-like growth factor 1
susceptibility no_association
ISO
DNA:haplotype: :rs12423791,rs7956547,rs5742632(human) DNA:SNP,haplotype: : rs12423791,rs5742629(human) DNA:SNPS: :rs10860860, rs2946834,rs6214(human)
RGD
PMID:22332214 PMID:22509095 PMID:21976954 PMID:20435602
RGD:8548827 , RGD:8548838 , RGD:8548829 , RGD:8548828
NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296
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Irx5
iroquois homeobox 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22581230
NCBI chr19:14,639,052...14,643,911
Ensembl chr19:14,624,225...14,642,318
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Kcnq5
potassium voltage-gated channel subfamily Q member 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23396134
NCBI chr 9:23,830,185...24,395,984
Ensembl chr 9:23,833,087...24,394,704
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Lama2
laminin subunit alpha 2
susceptibility
ISO
CTD Direct Evidence: marker/mechanism DNA:SNP: :rs12205363(human)
CTD RGD
PMID:23396134 PMID:27611182
RGD:13605610
NCBI chr 1:17,672,675...18,320,641
Ensembl chr 1:17,672,536...18,320,530
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Mmp2
matrix metallopeptidase 2
ISO
DNA:SNPs:cds, introns:multiple
RGD
PMID:20484597
RGD:8549731
NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
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Parl
presenilin associated, rhomboid-like
ISO
DNA:snp:intron:c.511+3941G>A (rs6775202)(human)
RGD
PMID:18846214
RGD:12902630
NCBI chr11:80,594,059...80,620,506
Ensembl chr11:80,593,192...80,620,506
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Prss56
serine protease 56
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23396134
NCBI chr 9:87,842,806...87,859,978
Ensembl chr 9:87,854,805...87,859,978
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Ptch1
patched 1
ISO
ClinVar Annotator: match by term: Myopia
ClinVar
PMID:25741868 PMID:28492532
NCBI chr17:1,542,705...1,607,730
Ensembl chr17:1,542,877...1,607,333
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Rasgrf1
RAS protein-specific guanine nucleotide-releasing factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23396134
NCBI chr 8:90,445,154...90,574,274
Ensembl chr 8:90,445,154...90,574,269
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Rdh5
retinol dehydrogenase 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23396134
NCBI chr 7:1,341,172...1,346,863
Ensembl chr 7:1,340,934...1,351,558
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Six6
SIX homeobox 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23396134
NCBI chr 6:91,634,568...91,639,548
Ensembl chr 6:91,634,568...91,639,548
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Slc25a4
solute carrier family 25 member 4
ISO
ClinVar Annotator: match by term: Myopia
ClinVar
PMID:16155110 PMID:21549803 PMID:22497660 PMID:25741868 PMID:27693233 PMID:27854218 PMID:28823815 PMID:29654543 PMID:33923309 More...
NCBI chr16:46,072,935...46,076,730
Ensembl chr16:46,072,939...46,076,733
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Slc39a13
solute carrier family 39 member 13
ISO
ClinVar Annotator: match by term: Myopia
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 3:77,039,411...77,047,528
Ensembl chr 3:77,037,565...77,049,226
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Tnc
tenascin C
ISO
ClinVar Annotator: match by term: Myopia
ClinVar
PMID:25741868
NCBI chr 5:77,375,851...77,460,712
Ensembl chr 5:77,375,851...77,460,624
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Tyr
tyrosinase
ISO
ClinVar Annotator: match by term: Myopia
ClinVar
PMID:7704033 PMID:7955413 PMID:9163730 PMID:13680365 PMID:15381243 PMID:18326704 PMID:18463683 PMID:19060277 PMID:19626598 PMID:19865097 PMID:20861488 PMID:22294196 PMID:24033266 PMID:24721949 PMID:25741868 PMID:25919014 PMID:28266639 PMID:28378818 PMID:28451379 PMID:28492532 PMID:28629449 PMID:28976636 PMID:29345414 PMID:31077556 PMID:33223529 PMID:34008892 More...
NCBI chr 1:141,115,036...141,210,207
Ensembl chr 1:141,115,036...141,210,207
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Vdr
vitamin D receptor
susceptibility
ISO
DNA:SNP:exon:c.2T>C (human)
RGD
PMID:21897619
RGD:8157620
NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677
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Vps13b
vacuolar protein sorting 13 homolog B
ISO
ClinVar Annotator: match by term: Myopia
ClinVar
PMID:15141358 PMID:16199547 PMID:16648375 PMID:20461111 PMID:24334764 PMID:28492532 PMID:32581362 More...
NCBI chr 7:66,557,862...67,128,429
Ensembl chr 7:66,558,471...67,128,429
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Zfp469
zinc finger protein 469
ISO
ClinVar Annotator: match by term: Myopia
ClinVar
PMID:25741868 PMID:28492532
NCBI chr19:50,282,337...50,324,010
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Cnp
2',3'-cyclic nucleotide 3' phosphodiesterase
ISO
ClinVar Annotator: match by term: Myopia 2, autosomal dominant
ClinVar
NCBI chr10:85,511,164...85,517,723
Ensembl chr10:85,511,160...85,517,720
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Zfp644
zinc finger protein 644
ISO
ClinVar Annotator: match by term: Myopia 21, autosomal dominant
OMIM ClinVar
PMID:21695231 PMID:25741868
NCBI chr14:3,105,002...3,179,961
Ensembl chr14:3,105,178...3,179,940
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Primpol
primase and DNA directed polymerase
ISO
ClinVar Annotator: match by term: Myopia 22, autosomal dominant
ClinVar OMIM
PMID:23579484
NCBI chr16:45,681,252...45,715,758
Ensembl chr16:45,681,326...45,715,565
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Lrpap1
LDL receptor related protein associated protein 1
ISO
ClinVar Annotator: match by term: Myopia 23, autosomal recessive | ClinVar Annotator: match by term: Rare isolated myopia
OMIM ClinVar
PMID:23830514 PMID:24033266 PMID:25525168 PMID:25741868 PMID:26271838
NCBI chr14:75,651,371...75,663,380
Ensembl chr14:75,651,376...75,665,414
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P3h2
prolyl 3-hydroxylase 2
ISO
ClinVar Annotator: match by term: Rare isolated myopia
ClinVar
PMID:24172257 PMID:25469533 PMID:25741868 PMID:28492532
NCBI chr11:74,634,267...74,775,422
Ensembl chr11:74,634,267...74,775,421
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Slc39a5
solute carrier family 39 member 5
ISO
ClinVar Annotator: match by term: Myopia 24, autosomal dominant
OMIM ClinVar
PMID:24891338 PMID:25741868
NCBI chr 7:822,873...830,865
Ensembl chr 7:824,818...830,242
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P4ha2
prolyl 4-hydroxylase subunit alpha 2
ISO
ClinVar Annotator: match by term: Myopia 25, autosomal dominant
OMIM ClinVar
PMID:25741866 PMID:25741868 PMID:28492532
NCBI chr10:38,243,136...38,271,983
Ensembl chr10:38,243,139...38,287,314
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Arr3
arrestin 3
ISO
ClinVar Annotator: match by term: ARR3-related condition | ClinVar Annotator: match by term: Myopia 26, X-linked, female-limited
OMIM ClinVar
PMID:25741868 PMID:27829781 PMID:28492532 PMID:33482870
NCBI chr X:65,699,881...65,712,224
Ensembl chr X:65,698,699...65,712,153
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Cpsf1
cleavage and polyadenylation specific factor 1
ISO
ClinVar Annotator: match by term: Myopia 27
OMIM ClinVar
PMID:25741868 PMID:28492532 PMID:30689892
NCBI chr 7:108,319,429...108,330,018
Ensembl chr 7:108,319,434...108,329,934
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Dok1
docking protein 1
ISO
ClinVar Annotator: match by term: Myopia 28, autosomal recessive
ClinVar
PMID:26957899 PMID:28492532 PMID:36917121
NCBI chr 4:115,537,453...115,540,464
Ensembl chr 4:115,537,462...115,540,465
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Loxl3
lysyl oxidase-like 3
ISO
ClinVar Annotator: match by term: Myopia 28, autosomal recessive
OMIM ClinVar
PMID:26957899 PMID:28492532 PMID:33456446 PMID:36917121
NCBI chr 4:115,540,640...115,556,958
Ensembl chr 4:115,540,685...115,557,466
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Ncaph2
non-SMC condensin II complex, subunit H2
ISO
ClinVar Annotator: match by term: Myopia 6 | ClinVar Annotator: match by term: Myopia, susceptibility to
ClinVar
PMID:10545952 PMID:10749987 PMID:11673586 PMID:12020273 PMID:14970747 PMID:14994243 PMID:15210538 PMID:16326995 PMID:16765077 PMID:18924171 PMID:19879173 PMID:23407777 PMID:23643385 PMID:23719228 PMID:25058219 PMID:25741868 PMID:25959673 PMID:27290639 PMID:28492532 PMID:28518168 PMID:28798025 PMID:29193756 PMID:29351582 PMID:31589614 PMID:31623504 PMID:32461654 PMID:32668698 PMID:33098801 PMID:33171185 PMID:34426522 PMID:34691145 More...
NCBI chr 7:120,422,926...120,439,942
Ensembl chr 7:120,422,956...120,439,938
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Tymp
thymidine phosphorylase
ISO
ClinVar Annotator: match by term: Myopia 6
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 7:120,438,768...120,444,088
Ensembl chr 7:120,438,770...120,443,874 Ensembl chr 7:120,438,770...120,443,874
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Myrf
myelin regulatory factor
ISO
ClinVar Annotator: match by term: Nanophthalmos 1
ClinVar
NCBI chr 1:206,854,175...206,886,276
Ensembl chr 1:206,854,175...206,886,157
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Tmem98
transmembrane protein 98
ISO
ClinVar Annotator: match by term: Nanophthalmos 4
OMIM ClinVar
PMID:24852644 PMID:26392740
NCBI chr10:65,796,173...65,807,082
Ensembl chr10:65,796,145...65,807,079
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Sag
S-antigen visual arrestin
ISO
ClinVar Annotator: match by term: Congenital stationary night blindness Oguchi type 1 | ClinVar Annotator: match by term: Oguchi disease-1
OMIM ClinVar
PMID:9452120 PMID:15234147 PMID:21151602 PMID:22419846 PMID:22581970 PMID:22665972 PMID:25741868 PMID:28492532 PMID:33047631 More...
NCBI chr 9:88,467,797...88,508,821
Ensembl chr 9:88,469,376...88,508,820
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Grk1
G protein-coupled receptor kinase 1
ISO ISS
ClinVar Annotator: match by term: Oguchi disease-2 OMIM:613411
OMIM ClinVar MouseDO
PMID:9020843 PMID:9419375 PMID:16319817 PMID:17070587 PMID:17765441 PMID:19753316 PMID:22959359 PMID:25741868 PMID:26349155 PMID:27511724 PMID:28418496 PMID:28511019 PMID:30718709 More...
NCBI chr16:76,122,501...76,135,792
Ensembl chr16:76,123,842...76,135,792
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Sag
S-antigen visual arrestin
ISO
ClinVar Annotator: match by term: Oguchi disease-2
ClinVar
PMID:9452120 PMID:15234147 PMID:21151602 PMID:22419846 PMID:22665972 PMID:25741868 PMID:28492532 PMID:33047631 More...
NCBI chr 9:88,467,797...88,508,821
Ensembl chr 9:88,469,376...88,508,820
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Ahctf1
AT hook containing transcription factor 1
ISO
ClinVar Annotator: match by term: Strabismus
ClinVar
NCBI chr13:91,481,936...91,536,391
Ensembl chr13:91,481,936...91,536,391
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Bmp4
bone morphogenetic protein 4
ISO
RGD
PMID:14710472
RGD:8699500
NCBI chr15:19,618,538...19,633,494
Ensembl chr15:19,618,542...19,623,306
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Foxp1
forkhead box P1
ISO
ClinVar Annotator: match by term: Strabismus
ClinVar
PMID:25741868
NCBI chr 4:131,559,599...132,155,092
Ensembl chr 4:131,564,756...132,112,258
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Gnb1
G protein subunit beta 1
ISO
ClinVar Annotator: match by term: Strabismus
ClinVar
PMID:9596582 PMID:24033266 PMID:25485910 PMID:25741868 PMID:25741901 PMID:27108799 PMID:27513193 PMID:28492532 PMID:30194818 PMID:31735425 PMID:32134617 PMID:32963807 PMID:35253369 PMID:36405774 More...
NCBI chr 5:166,075,508...166,142,223
Ensembl chr 5:166,075,629...166,142,124
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Med13l
mediator complex subunit 13L
ISO
ClinVar Annotator: match by term: Strabismus
ClinVar
PMID:25741868
NCBI chr12:37,807,596...38,004,886
Ensembl chr12:37,808,285...38,004,473
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Nf1
neurofibromin 1
ISO
ClinVar Annotator: match by term: Strabismus
ClinVar
PMID:21520333 PMID:25741868 PMID:28492532 PMID:33471991
NCBI chr10:64,306,027...64,539,112
Ensembl chr10:64,306,301...64,536,658
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Olfm3
olfactomedin 3
ISO
ClinVar Annotator: match by term: Strabismus, susceptibility to
ClinVar
NCBI chr 2:202,729,610...202,952,120
Ensembl chr 2:202,729,936...202,952,112
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Ptpn11
protein tyrosine phosphatase, non-receptor type 11
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...
NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925
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Qars1
glutaminyl-tRNA synthetase 1
ISO
ClinVar Annotator: match by term: Strabismus
ClinVar
PMID:25741868 PMID:28492532 PMID:30755392 PMID:31618474
NCBI chr 8:109,207,705...109,215,738
Ensembl chr 8:109,207,705...109,215,739
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Smarca4
SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4
ISO
ClinVar Annotator: match by term: Strabismus
ClinVar
PMID:25741868
NCBI chr 8:20,167,717...20,258,975
Ensembl chr 8:20,167,717...20,258,975
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Sox3
SRY-box transcription factor 3
ISO
ClinVar Annotator: match by term: Strabismus
ClinVar
PMID:23757202 PMID:25741868 PMID:28492532
NCBI chr X:139,308,608...139,310,687
Ensembl chr X:139,309,329...139,310,678
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Sox5
SRY-box transcription factor 5
ISO
ClinVar Annotator: match by term: Strabismus
ClinVar
PMID:25741868
NCBI chr 4:176,781,375...177,736,833
Ensembl chr 4:176,785,892...177,736,852
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Stxbp1
syntaxin binding protein 1
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...
NCBI chr 3:16,076,725...16,138,431
Ensembl chr 3:16,076,391...16,138,369
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Tmco1
transmembrane and coiled-coil domains 1
ISO
ClinVar Annotator: match by term: Strabismus
ClinVar
PMID:25741868 PMID:30755392 PMID:31102500 PMID:32214227
NCBI chr13:79,460,229...79,483,557
Ensembl chr13:79,460,135...79,483,555
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Nog
noggin
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Tarsal-carpal coalition syndrome DNA:missense mutation:cds:c.682T>G (p.C228G)(human)
OMIM CTD ClinVar RGD
PMID:4019538 PMID:7557985 PMID:10080184 PMID:11545688 PMID:17245852 PMID:17668388 PMID:25741868 PMID:28492532 PMID:29159868 PMID:26211601 More...
RGD:12801450
NCBI chr10:74,128,712...74,130,339
Ensembl chr10:74,128,712...74,130,339
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